subject area of
- A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic? Journal Articles
- A new frameshift β°‐thalassemia mutation (codons 27–28 +C) found in a Chinese family Journal Articles
- A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease Journal Articles
- Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration Journal Articles
- Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis Journal Articles
- Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the -subunit of cone specific transducin (GNAT2) Journal Articles
- DOMINANT β-THALASSEMIA DUE TO A NEWLY IDENTIFIED FRAMESHIFT MUTATION IN EXON 3 (CODON 113, GTG → TG) Journal Articles
- Dominantly inherited β thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the β globin gene: Hb morgantown (β91 CTG>CG) Journal Articles
- Frameshift Mutation in the α2-Globin Gene Causing α+-Thalassemia: Codon 49 (−GC) Journal Articles
- Frameshift mutation in the APOA5 gene causing hypertriglyceridemia in a Pakistani family: Management and considerations for cardiovascular risk Journal Articles
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Genotype and phenotype in 12 additional individuals with
SATB2 ‐associated syndrome Journal Articles - Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy Journal Articles
- Identification of two novel β°-thalassemia mutations in a filipino family: Frameshift codon 67 (− TG) and a β-globin gene deletion Journal Articles
- MACSE: Multiple Alignment of Coding SEquences Accounting for Frameshifts and Stop Codons Journal Articles
- Maturity Onset Diabetes in the Young (MODY) type 3. Journal Articles
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Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a
RUNX 1 frameshift mutation Journal Articles - Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome Journal Articles
- Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation ( HBB :c.336dup) Journal Articles
- Normal Hb A2β-Thalassemia Trait: Frameshift Mutation (HBB: c.187_251dup) inCiswith the Hb A2’δ-Globin Gene Missense Mutation (HBD: c.49G>C) Journal Articles
- Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot Journal Articles
- Novel dominant β‐thalassemia: Hb Boston‐Kuwait [Codon 139/140(+T)] Journal Articles
- Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation Journal Articles
- The action of 1-nitroso-8-nitroprene in Eachericia coli: DNA adduct formation and mutational consequeces in the absence of necleotide excision-repair Journal Articles
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The genetic basis of asymptomatic codon 8 frame‐shift (
HBB :c25_26delAA ) β0‐thalassaemia homozygotes Journal Articles - The genotypic and phenotypic spectrum of MTO1 deficiency Journal Articles
- The influence of local DNA sequence and DNA repair background on the mutational specificity of 1-nitroso-8-nitropyrene in Escherichia coli: inferences for mutagenic mechanisms. Journal Articles
- Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening Journal Articles
- Three New β-Thalassemia Mutations with Varying Degrees of Severity Journal Articles
- Two New α-Thalassemia Frameshift Mutations Journal Articles
- Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon Journal Articles
- Widely Used Herpes Simplex Virus 1 ICP0 Deletion Mutant Strain dl1403 and Its Derivative Viruses Do Not Express Glycoprotein C Due to a Secondary Mutation in the gC Gene Journal Articles
- α+-Thalassemia Due to a Frameshift Mutation of theα2-Globin Gene [codons 55/56 (+T) orHBA2: c.168dup] Journal Articles
- α+-Thalassemia Trait Caused by a Frameshift Mutation in Exon 2 of the α2-Globin Gene [HBA2 c.244delT] Journal Articles