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COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome
Background: Autosomal forms of Alport syndrome represent 20% of all patients (15% recessive and 5% dominant). They are caused by mutations in the COL4A3 and COL4A4 genes, which encode a-3 and a-4 collagen IV chains of the glomerular basement membrane, cochlea and eye. Thin basement membrane nephropa...
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| Publicado no: | Int J Mol Epidemiol Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
e-Century Publishing Corporation
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4348702/ https://ncbi.nlm.nih.gov/pubmed/25755845 |
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