DMD exon 1 truncating point mutations: Amelioration of phenotype by alternative translation initiation in exon 6

Human Mutation

Volumn 30, Issue 4, 2009, Pages 633-640

  Gurvich, Olga L ^a   Maiti, Baijayanta ^a   Weiss, Robert B ^a   Aggarwal, Gaurav ^a   Howard, Michael T ^a   Flanigan, Kevin M ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Becker muscular dystrophy; BMD; DMD; Duchenne muscular dystrophy; Dystrophinopathy; Translation; Truncating mutations

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; DYSTROPHIN; MORPHOLINE DERIVATIVE;

ADULT; AGED; ANIMAL CELL; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DUCHENNE MUSCULAR DYSTROPHY; DUCHENNE MUSCULAR DYSTROPHY GENE; EXON; FRAMESHIFT MUTATION; GENE; GENE CONSTRUCT; HUMAN; HUMAN TISSUE; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; POINT MUTATION; PRIORITY JOURNAL; REPORTER GENE; START CODON; STOP CODON; TRANSLATION INITIATION; TRANSLATION REGULATION;

ANIMALS; CELL LINE; CODON, INITIATOR; CODON, NONSENSE; DYSTROPHIN; EXONS; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; IMMUNOBLOTTING; LUCIFERASES; MUSCLES; MUSCULAR DYSTROPHY, DUCHENNE; PHENOTYPE; POINT MUTATION; PROTEIN BIOSYNTHESIS; RECOMBINANT FUSION PROTEINS;

EID: 63749091373     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20913     Document Type: Article

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