Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease
2011
Purpose of reviewThis review dsecribes the clinical spectrum of a newly identified disorder related to COL4A1 gene mutations. COL4A1 encodes type IV collagen α1 chain, a crucial component of nearly all basement membrane including vasculature, renal glomerule and ocular structures.Recent findingsThe
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