Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

Alport syndrome is a mainly X-linked hereditary disease of basement membranes that is characterized by progressive renal failure, deafness, and ocular lesions. It is associated with mutations of the COL4A5 gene located at Xq22 and encoding the alpha5 chain of type IV collagen. We have screened 48 of...

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Detalhes bibliográficos
Main Authors: Knebelmann, B., Breillat, C., Forestier, L., Arrondel, C., Jacassier, D., Giatras, I., Drouot, L., Deschênes, G., Grünfeld, J. P., Broyer, M., Gubler, M. C., Antignac, C.
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914854/
https://ncbi.nlm.nih.gov/pubmed/8940267
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