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

Articolo

Data di Pubblicazione:

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.

Tipologia CRIS:

03A-Articolo su Rivista

Keywords:

Alport Syndrome; COL4A5 gene; mutation analysis

Elenco autori:

RENIERI A ;SERI M ;MYERS JC ;PIHLAJANIEMI T ;SESSA A ;RIZZONI G ;DE MARCHI M

Link alla scheda completa:

https://iris.unito.it/handle/2318/30274

Pubblicato in:

HUMAN GENETICS

Journal