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- Title
Missense mutation in a von Willebrand factor type A domain of the α3(VI) collagen gene ( COL6A3) in a family with Bethlem myopathy.
- Authors
Pan, Te‐Cheng; Zhang, Rui‐Zhu; Pericak‐Vance, Margaret A.; Tandan, Rup; Fries, Timothy; Stajich, Jeffrey M.; Viles, Kristi; Vance, Jeffery M.; Chu, Mon‐Li; Speer, Marcy C.
- Abstract
Identifies a G-to-A mutation in the N-terminal globular domain-coding region of the collagen gene COL6A3 in a large American pedigree, leading to the substitution of glycine by glutamic acid in the N2 motif. Characteristics of Bethlem myopathy; Existing evidence on linkage and genetic heterogeneity in Bethlem myopathy.
- Subjects
GENETIC mutation; COLLAGEN; MUSCLE diseases; GLUTAMIC acid; GLYCINE; GENETICS
- Publication
Human Molecular Genetics, 1998, Vol 7, Issue 5, p807
- ISSN
0964-6906
- Publication type
Article
- DOI
10.1093/hmg/7.5.807