COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome-Reference-Cited by-同舟云学术

COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome

Published:2002-06 Issue:6 Volume:61 Page:1947-1956
ISSN:0085-2538
Container-title:Kidney International
language:en
Short-container-title:Kidney International

Author:

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

Publisher

Elsevier BV

Subject

Nephrology

Reference32 articles.

1. Identification of mutations in the COL4A5 collagen gene in Alport syndrome;Barker;Science,1990

2. Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome;Knebelmann;Hum Mol Genet,1995

3. X-linked Alport syndrome: An SSCP-based mutation survey over all 51 exons of the COL4A5 gene;Renieri;Am J Hum Genet,1996

4. The clinical spectrum of type IV collagen mutations;Lemmink;Hum Mutat,1997

5. High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing;Martin;J Am Soc Nephrol,1998

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