Point Mutation
Concept
Vocabulary Service
Overview
subject area of
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De novoβ-globin gene mutation [β63(E7)HIS→TYR] giving rise to Hb M disease in a newfoundlander Academic Article
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A Complex RNA-Cleaving DNAzyme That Can Efficiently Cleave a Pyrimidine–Pyrimidine Junction Academic Article
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A Comprehensive, Ethnically Diverse Library of Sickle Cell Disease-Specific Induced Pluripotent Stem Cells Academic Article
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A Novel Sickle Hemoglobin: Hemoglobin S-South End Academic Article
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A Novel Type 2A von Willebrand Factor Mutation (V1499E) Associated With Variable Clinical Expression Academic Article
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A Single Point Mutation in ϵ-COP Results in Temperature-sensitive, Lethal Defects in Membrane Transport in a Chinese Hamster Ovary Cell Mutant Academic Article
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A case of non-resolving hemophilia B Leyden in a 42-year-old male (F9promoter + 13 A>G) Academic Article
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A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease Academic Article
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A mitochondrial disorder with ptosis and exercise intolerance without ophthalmoparesis secondary to m.5865 T > C variant Academic Article
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A non-canonical base pair within the human immunodeficiency virus Rev-responsive element is involved in both Rev and small molecule recognition Academic Article
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A novel and de novo spontaneous point mutation (Glu271STOP) of the antithrombin gene results in a type I deficiency and thrombophilia Academic Article
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A novel candidate region for ALS on chromosome 14q11.2 Academic Article
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A point mutation in the neu1 promoter recruits an ectopic repressor, Nkx3.2 and results in a mouse model of sialidase deficiency Academic Article
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Absence of Stabilizing Mutations of β-Catenin Encoded by CTNNB1 Exon 3 in a Large Series of Sporadic Parathyroid Adenomas Academic Article
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Access to a Syllabus of Human Hemoglobin Variants (1996) Via the World Wide Web Academic Article
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Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2 Academic Article
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An anti-CRISPR from a virulent streptococcal phage inhibits Streptococcus pyogenes Cas9 Academic Article
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Association of Venous Thromboembolism With Hormonal Contraception and Thrombophilic Genotypes Academic Article
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Ataxin-7 Can Export from the Nucleus via a Conserved Exportin-dependent Signal Academic Article
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Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations Academic Article
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Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual disability and autism Academic Article
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BldD fromStreptomyces coelicoloris a non-essential global regulator that binds its own promoter as a dimer Academic Article
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Breast cancer prognostic significance of a single nucleotide polymorphism in the proximal androgen response element of the prostate specific antigen gene promoter Academic Article
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CPEO – Like mitochondrial myopathy associated with m.8340G>A mutation Academic Article
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Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans Academic Article
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Characterization of a novel SCN5A genetic variant A1294G associated with mixed clinical phenotype Academic Article
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Characterization of nickel-induced mutations Academic Article
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Characterization of platelet factor 4 amino acids that bind pathogenic antibodies in heparin‐induced thrombocytopenia Academic Article
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Chronic Renal Failure and Proteinuria in Adulthood: Fabry Disease Predominantly Affecting the Kidneys Academic Article
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Cleavage-dependent Ligation by the FLP Recombinase Academic Article
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Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation Academic Article
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Clinical, physiological, and histological features in a kindred with the T3271C MELAS mutation Academic Article
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Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis Academic Article
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Codon bias and frequency-dependent selection on the hemagglutinin epitopes of influenza A virus Academic Article
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Comparison of 1 month with 3 months of anticoagulation for a first episode of venous thromboembolism associated with a transient risk factor Academic Article
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Compensatory regulation of HDAC5 in muscle maintains metabolic adaptive responses and metabolism in response to energetic stress Academic Article
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Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation Academic Article
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Complete genome sequence of a raccoon rabies virus isolate Academic Article
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Cooperative and Critical Roles for Both G Domains in the GTPase Activity and Cellular Function of Ribosome-Associated
Escherichia coli
EngA Academic Article
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Cowden Syndrome–Affected Patients with PTEN Promoter Mutations Demonstrate Abnormal Protein Translation Academic Article
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De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European Academic Article
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Detection of Severe Nondeletionalα-Thalassemia Mutations Using a Single-Tube Multiplex ARMS Assay Academic Article
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Diagnostic testing for α-globin gene disorders in a heterogeneous North American population Academic Article
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Discrepancy between antithrombin activity methods revealed in Antithrombin Stockholm: do factor Xa–based methods overestimate antithrombin activity in some patients? Academic Article
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Editing aberrant splice sites efficiently restores β-globin expression in β-thalassemia Academic Article
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Effect of the Factor V Leiden Mutation on the Clinical Expression of Severe Hemophilia A Academic Article
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Endurance exercise rescues progeroid aging and induces systemic mitochondrial rejuvenation in mtDNA mutator mice Academic Article
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Error thresholds for RNA replication in the presence of both point mutations and premature termination errors Academic Article
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Factor V Leiden and prothrombin gene G20210A mutations in Italian patients with Behçet's disease and deep vein thrombosis Academic Article
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Factor VII Deficiency Caused by a Structural Variant N57D of the First Epidermal Growth Factor Domain Academic Article
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Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort Academic Article
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Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation Academic Article
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Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing Academic Article
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Hb H hydrops foetalis syndrome: a case report and review of literature Academic Article
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Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease Academic Article
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High Oxygen Affinity Hemoglobin Variant in a Canadian Family: Hb Bunbury [β94(FG1)Asp→Asn,GAC→AAC] Academic Article
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IDENTIFICATION OF TWO NEW β-THALASSEMIA SPLICE MUTATIONS: IVS-I-1 (G → C) AND IVS-I (−2) (A → C) Academic Article
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Identifican of A New High Oxygen Affinity Hemoglobin Variant: Hb Aurora [β139(H17)Asn→Tyr] Academic Article
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Identification of Critical Residues on Thrombin Mediating Its Interaction with Fibrin Academic Article
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Identification of a New β-Thalassemia Nonsense Mutation [Codon 59 (AAG→TAG)] Academic Article
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Identification of a New δ Chain Hemoglobin Variant in a β-Thalassemia Carrier: Hb A2-MUMC [δ13(A10)Ala → Asp] Academic Article
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Identification of the MMRN1 Binding Region within the C2 Domain of Human Factor V Academic Article
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Implications of Antibiotic Resistance in the Management ofHelicobacter pyloriInfection: CanadianHelicobacterStudy Group Academic Article
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Increase in Hemoglobin Concentration during Therapy with Hydroxyurea in Cooley's Anemia Academic Article
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Investigating the effect of a single glycine to alanine substitution on interactions of antimicrobial peptide latarcin 2a with a lipid membrane Academic Article
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JAK2V617F mutation for the early diagnosis of Ph− myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis Academic Article
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Key Roles of Phe1112and Ser1115in the Pore-Forming IIIS5-S6 Linker of L-Type Ca2+Channel α1CSubunit (CaV1.2) in Binding of Dihydropyridines and Action of Ca2+Channel Agonists Academic Article
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Location of the multimerin 1 binding site in coagulation factor V: An update Academic Article
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MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation Academic Article
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Microheterogeneity of antithrombin III Academic Article
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Mitochondrial DNA point mutations and a novel deletion induced by direct low-LET radiation and by medium from irradiated cells Academic Article
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Molecular Analysis and Prenatal Diagnosis of Human Fumarase Deficiency Academic Article
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Molecular biology approaches to biological monitoring of genotoxic substances Academic Article
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Multiple Minisequencing Screen for Seven Southeast Asian Nondeletional α-Thalassemia Mutations Academic Article
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Mutations in a Carboxy-Terminal Region of Vesicular Stomatitis Virus Glycoprotein G That Affect Membrane Fusion Activity Academic Article
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Myasthenia graves-like symptoms associated with rare mitochondrial mutation (m.5728T>C) Academic Article
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Negative regulation of Gli1 and Gli2 activator function by Suppressor of fused through multiple mechanisms Academic Article
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Non-Thalassemic Phenotype Associated With the -83 (G > A) Mutation of theβ-Globin Gene Promoter (HBB: c.-133G > A) Academic Article
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Novel Mutation of the α2-Globin Gene Initiation Codon (Atg→A-G) in a Vietnamese Girl with Hb H Disease Academic Article
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Novel Role for PilNO in Type IV Pilus Retraction Revealed by Alignment Subcomplex Mutations Academic Article
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Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure Academic Article
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Novel β-Thalassemia Mutation In Patients of Jewish Descent: [β30(B12)ARGGLY OR IVS-I (-2) (AG)] Academic Article
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Nuclear import of the BTB/POZ transcriptional regulator Kaiso Academic Article
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Patients with type 2 diabetes have a high frequency of the C282Y mutation of the hemochromatosis gene. Academic Article
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Phosphate Assimilation in
Rhizobium
(
Sinorhizobium
)
meliloti
: Identification of a
pit
-Like Gene Academic Article
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Physical Interaction with Yes-associated Protein Enhances p73 Transcriptional Activity Academic Article
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Predominant Interactions between μ-Conotoxin Arg-13 and the Skeletal Muscle Na+ Channel Localized by Mutant Cycle Analysis Academic Article
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Prenatal sonographic diagnosis of hypochondroplasia in a high‐risk fetus Academic Article
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Rapid Evolution of cis-Regulatory Sequences via Local Point Mutations Academic Article
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Rare Genetic Variants and High-Density Lipoprotein Academic Article
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Rare case of optic pathway glioma with extensive intra-ocular involvement in a child with neurofibromatosis type 1 Academic Article
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Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity Academic Article
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Relation of Factor V Leiden Genotype to Risk for Acute Deep Venous Thrombosis after Joint Replacement Surgery Academic Article
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Renal venous thrombosis in a newborn with prothrombotic risk factors Academic Article
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Repopulation of ?0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNAGly results in respiratory chain dysfunction Academic Article
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SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations Academic Article
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Second Report of Hb Toulon [α77(EF6)Pro→His] in a Canadian Family of Italian Descent Academic Article
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Severity of β-thalassemia due to genotypes involving the IVS-I-6 (T→C) mutation Academic Article
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Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation Academic Article
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Site-directed mutagenesis of the P2 residue of human antithrombin Academic Article
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Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G?C genotype Academic Article
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Stability and peptide binding specificity of Btk SH2 domain: Molecular basis for X-linked agammaglobulinemia Academic Article
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Stationary phase-induction of G→T mutations in Escherichia coli Academic Article
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Structure and Function of the Glycopeptide N-methyltransferase MtfA, a Tool for the Biosynthesis of Modified Glycopeptide Antibiotics Academic Article
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THE Hb S/β+-Thalassemia Phenotype Demonstrates that the IVS-I (−2) (A>C) Mutation is a Mild β-Thalassemia Allele Academic Article
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The
bldD
Gene of
Streptomyces coelicolor
A3(2): a Regulatory Gene Involved in Morphogenesis and Antibiotic Production Academic Article
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The Guanylyltransferase Domain of Mammalian mRNA Capping Enzyme Binds to the Phosphorylated Carboxyl-terminal Domain of RNA Polymerase II Academic Article
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The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal Disease Academic Article
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The T-786→C Mutation in Endothelial Nitric Oxide Synthase Is Associated With Hypertension Academic Article
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The expanding clinical phenotype of the tRNALeu(UUR) A→G mutation at np 3243 of mitochondrial DNA: Diabetic embryopathy associated with mitochondrial cytopathy Academic Article
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Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening Academic Article
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Thrombin Interacts with Thrombomodulin, Protein C, and Thrombin-activatable Fibrinolysis Inhibitor via Specific and Distinct Domains Academic Article
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Treatment of Two Infants with Cooley's Anemia with Sodium Phenylbutyrate Academic Article
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Using FLIM-FRET to Measure Conformational Changes of Transglutaminase Type 2 in Live Cells Academic Article
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α-Thalassemia Caused by Two Novel Splice Mutations of the α2-Globin Gene: IVS-I-1 (G>A and G>T) Academic Article
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α+-Thalassemia Trait Caused by a Nonsense Mutation in the α2-Globin Gene: Codon 54 (CAG>TAG) Academic Article
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β-Thalassemia intermedia in a lebanese child due to homozygosity for the -88 (C→T) Mutation Academic Article
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β‐thalassemia intermedia caused by compound heterozygosity for Hb Malay (β codon 19 AAC→AGC; Asn→Ser) and codons 41/42 (‐CTTT) β
0
‐thalassemia mutation Academic Article