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Alport syndrome caused by a 5′ deletion within the COL4A5 gene

✍ Scribed by Alessandra Renieri; Marco Seri; Jeanne C. Myers; Taina Pihlajaniemi; Adalberto Sessa; Gianfranco Rizzoni; Mario Marchi

Publisher
Springer
Year
1992
Tongue
English
Weight
295 KB
Volume
89
Category
Article
ISSN
0340-6717

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✦ Synopsis

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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