Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies

Glycine substitutions in the conserved Gly-X-Y motif in the triple helical domain of collagen VI are the most commonly identified mutations in the collagen VI myopathies including Ullrich congenital muscular dystrophy, Bethlem myopathy, and intermediate phenotypes. We describe clinical and genetic c...

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Detaylı Bibliyografya
Yayımlandı:Hum Mutat
Asıl Yazarlar: Butterfield, Russell J., Foley, A. Reghan, Dastgir, Jahannaz, Asman, Stephanie, Dunn, Diane M., Zou, Yaqun, Hu, Ying, Flanigan, Kevin M., Swoboda, Kathryn J., Winder, Thomas L., Weiss, Robert B., Bönnemann, Carsten G.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2013
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4520221/
https://ncbi.nlm.nih.gov/pubmed/24038877
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22429
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