TY - JOUR
AU - Gould, Douglas B.
AB - Heterotrimers composed of collagen type IV alpha 1 (COL4A1) and alpha 2 (COL4A2) constitute one of the most abundant components of nearly all basement membranes. Accordingly, mutations in COL4A1 or COL4A2 are pleiotropic and contribute to a broad spectrum of disorders, including myopathy, glaucoma and hemorrhagic stroke. Here, we summarize the contributions of COL4A1 and COL4A2 mutations in human disease, integrate knowledge gained from model organisms and evaluate the implications for pathogenic mechanisms and therapeutic approaches.
TI - COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets
JF - Human Molecular Genetics
DO - 10.1093/hmg/dds346
DA - 2012-08-21
UR - https://www.deepdyve.com/lp/pubmed-central/col4a1-and-col4a2-mutations-and-disease-insights-into-pathogenic-on4Qtc07xu
SP - R97
EP - R110
VL - 21
IS - R1
DP - DeepDyve
ER -