Alport syndrome caused by a 5' deletion within the COL4A5 gene
Human Genetics
|April 1, 1992
Abstract:
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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