Alport syndrome caused by a 5' deletion within the COL4A5 gene.

A Renieri,M Seri,J C Myers,T Pihlajaniemi,A Sessa,G Rizzoni,M De Marchi

Human genetics（1992）

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摘要

Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (greater than 38 kb) that included the 5' part of the gene.

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关键词

Internal Medicine, Metabolic Disease, Southern Blotting, cDNA Probe, Large Deletion

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