Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.

Congenital muscular dystrophies (CMDs) are autosomal recessive muscle disorders of early onset. Approximately half of CMD patients present laminin alpha2-chain (merosin) deficiency in muscle biopsies, and the disease locus has been mapped to the region of the LAMA2 gene (6q22-23) in several families...

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Hauptverfasser: Nissinen, M., Helbling-Leclerc, A., Zhang, X., Evangelista, T., Topaloglu, H., Cruaud, C., Weissenbach, J., Fardeau, M., Tomé, F. M., Schwartz, K., Tryggvason, K., Guicheney, P.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1996
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1915067/
https://ncbi.nlm.nih.gov/pubmed/8651294
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