Article
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
Kidney international - 1 Jun 2002
Longo Ilaria, Porcedda Paola, Mari Francesca, Giachino Daniela, Meloni Ilaria, Deplano Carla, Brusco Alfredo, Bosio Maurizio, Massella Laura, Lavoratti Giancarlo, Roccatello Dario, Frascá Giovanni, Mazzucco Gianna, Muda Andrea Onetti, Conti Maura, Fasciolo Federica, Arrondel Christelle, Heidet Laurence, Renieri Alessandra, De Marchi Mario
Abstract excerpt
UNLABELLED: COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome. BACKGROUND: Mutations of the type IV collagen COL4A5 gene cause X-linked Alport syndrome (ATS). Mutations of COL4A3 and COL4A4 have been reported both in autosomal-recessive and autosomal-dominant ATS, as well as in benign familial hematuria (BFH). In the latter conditions, however, clinical features...
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