COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity

Collagen type IV alpha 1 and alpha 2 chains form heterotrimers ([α1(IV)](2)α2(IV)) that represent a fundamental basement membrane constituent. Dominant COL4A1 and COL4A2 mutations cause a multisystem disorder that is marked by clinical heterogeneity and variable expressivity and that is generally ch...

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Pubblicato in:Am J Hum Genet
Autori principali: Labelle-Dumais, Cassandre, Schuitema, Vera, Hayashi, Genki, Hoff, Kendall, Gong, Wenhui, Dao, Dang Q., Ullian, Erik M., Oishi, Peter, Margeta, Marta, Gould, Douglas B.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6506795/
https://ncbi.nlm.nih.gov/pubmed/31051113
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.03.007
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