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.

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

DE MARCHI, Mario
1992-01-01

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.
1992
89
120
121
Alport Syndrome; COL4A5 gene; mutation analysis
RENIERI A ;SERI M ;MYERS JC ;PIHLAJANIEMI T ;SESSA A ;RIZZONI G ;DE MARCHI M
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/30274
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