Article
Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.
Pediatric nephrology (Berlin, Germany) - 1 May 2007
Rana Kesha, Tonna Stephen, Wang Yan Yan, Sin Lydia, Lin Tina, Shaw Elizabeth, Mookerjee Ishanee, Savige Judy
Abstract excerpt
Both thin basement membrane nephropathy (TBMN) and autosomal recessive Alport syndrome result from mutations in the COL4A3 and COL4A4 genes, and this study documents further mutations and polymorphisms in these genes. Thirteen unrelated children with TBMN and five individuals with autosomal recessive Alport syndrome were examined for mutations in the 52 exons of COL4A3 and the 47 coding exons of COL4A4 using...
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