Loading...
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...
Na minha lista:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Oxford University Press
2014
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3943517/ https://ncbi.nlm.nih.gov/pubmed/24203695 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt560 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|