Article
[Thin basement membrane nephropathy: a mutation in COL4A5 gene].
Zhonghua nei ke za zhi - 1 Apr 2001
Chen Y, Zhu S, Zhang Y
Abstract excerpt
OBJECTIVE: To investigate the mutations in COL4A5 in 3 X-linked thin basement membrane nephropathy families. METHODS: PCR-SSCP analysis were used for 51 exons of COL4A5 gene. If bands shift were found, then automated sequencing was performed after cloning in pGEM-T easy vectors. RESULTS: In one of the three families a glycine to alanine substitution was identified in the collagenous region of the COL4A5 gene, and...
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