Missense mutation in a von Willebrand factor type A domain of the α3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

Human Molecular Genetics

Volumn 7, Issue 5, 1998, Pages 807-812

  Pan, Te Cheng ^a   Zhang, Rui Zhu ^a   Pericak Vance, Margaret A ^b   Tandan, Rup ^c   Fries, Timothy ^c   Stajich, Jeffrey M ^b   Viles, Kristi ^b   Vance, Jeffery M ^b   Chu, Mon Li ^a,d   Speer, Marcy C ^b  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY OF VERMONT   (United States)

^d THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6; GLUTAMIC ACID; GLYCINE; PROTEIN SUBUNIT; VON WILLEBRAND FACTOR;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; CAUCASIAN; CHROMOSOME 21Q; CHROMOSOME 2Q; CLINICAL ARTICLE; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; JOINT CONTRACTURE; MISSENSE MUTATION; MYOPATHY; ONSET AGE; PEDIGREE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; CHROMOSOMES, HUMAN, PAIR 2; COLLAGEN; CONTRACTURE; FEMALE; FIBROBLASTS; GLUTAMIC ACID; GLYCINE; HUMANS; LINKAGE (GENETICS); MALE; MICE; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; PEDIGREE; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; VON WILLEBRAND FACTOR;

EID: 7144255542     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.5.807     Document Type: Article

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