Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

American Journal of Medical Genetics

Volumn 134 A, Issue 3, 2005, Pages 295-298

  Dent, K M ^a   Dunn, D M ^a   Von Niederhausern, A C ^a   Aoyagi, A T ^a   Kerr, L ^a   Bromberg, M B ^a   Hart, K J ^a   Tuohy, T ^a   White, S ^b   Den Dunnen, J T ^b   Weiss, R B ^a   Flanigan, Kevin M ^a  

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

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Becker; DMD; Duchenne; Dystrophin; SCAIP

Indexed keywords

DYSTROPHIN;

ARTICLE; BECKER MUSCULAR DYSTROPHY; DUCHENNE MUSCULAR DYSTROPHY; FRAMESHIFT MUTATION; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

CODON, NONSENSE; COHORT STUDIES; DNA; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; EXONS; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; HUMANS; MUSCULAR DYSTROPHY, DUCHENNE; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 20144389134     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30617     Document Type: Article

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