Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations

Collagen type IV alpha 1 and 2 (COL4A1 and COL4A2) are present in nearly all basement membranes. COL4A1 and COL4A2 mutations are pleiotropic, affecting multiple organ systems to differing degrees, and both genetic-context and environmental factors influence this variable expressivity. Here, we repor...

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Detalles Bibliográficos
Autores principales: Kuo, Debbie S., Labelle-Dumais, Cassandre, Mao, Mao, Jeanne, Marion, Kauffman, William B., Allen, Jennifer, Favor, Jack, Gould, Douglas B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943517/
https://www.ncbi.nlm.nih.gov/pubmed/24203695
http://dx.doi.org/10.1093/hmg/ddt560

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