Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

Autosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities and associated with mutations in either the COL4A3 or the COL4A4 gene, which encode the alpha3 and alpha4 type IV collagen chains, respectively. To date, muta...

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Detalhes bibliográficos
Main Authors: Boye, E, Mollet, G, Forestier, L, Cohen-Solal, L, Heidet, L, Cochat, P, Grünfeld, J P, Palcoux, J B, Gubler, M C, Antignac, C
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377543/
https://ncbi.nlm.nih.gov/pubmed/9792860
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