subject area of
- A spliceosomal intron in Giardia lamblia Journal Articles
- Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles Journal Articles
- DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome Journal Articles
- Editing aberrant splice sites efficiently restores β-globin expression in β-thalassemia Journal Articles
- Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS Journal Articles
- Genome sequence of the Brown Norway rat yields insights into mammalian evolution Journal Articles
- Genome-wide CRISPR-Cas9 Interrogation of Splicing Networks Reveals a Mechanism for Recognition of Autism-Misregulated Neuronal Microexons Journal Articles
- IDENTIFICATION OF TWO NEW β-THALASSEMIA SPLICE MUTATIONS: IVS-I-1 (G → C) AND IVS-I (−2) (A → C) Journal Articles
- IL-10R Polymorphisms Are Associated with Very-early-onset Ulcerative Colitis Journal Articles
- Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry Journal Articles
- Mild β+-Thalassemia Associated With Two Linked Sequence Variants: IVS-II-839 (T>C) and IVS-II-844 (C>A) Journal Articles
- Splice Acceptor Mutation [ HBB :c.93-2A > T] in a Patient with Hb S/β 0 -Thalassemia Journal Articles
- THE Hb S/β+-Thalassemia Phenotype Demonstrates that the IVS-I (−2) (A>C) Mutation is a Mild β-Thalassemia Allele Journal Articles
- Three New β-Thalassemia Mutations with Varying Degrees of Severity Journal Articles