Article
The clinical spectrum of type IV collagen mutations.
Human mutation - 1 Jan 1997
Lemmink H H, Schröder C H, Monnens L A, Smeets H J
Abstract excerpt
Clinical manifestations of type IV collagen mutations can vary from the severe, clinically and genetically heterogeneous renal disorder, Alport syndrome, to autosomal dominant familial benign hematuria. The predominant form of Alport syndrome is X-linked; more than 160 different mutations have yet been identified in the type IV collagen alpha 5 chain (COL4A5) gene, located at Xq22-24 head to head to the COL4A6...
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