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Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing
Alport syndrome is an inherited nephropathy associated with mutations in genes encoding type IV collagen chains present in the glomerular basement membrane. COL4A5 mutations are associated with the major X-linked form of the disease, and COL4A3 and COL4A4 mutations are associated with autosomal rece...
Guardado en:
| Publicado en: | J Am Soc Nephrol |
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| Autores principales: | , , , , , , , , , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
American Society of Nephrology
2014
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4243343/ https://ncbi.nlm.nih.gov/pubmed/24854265 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2013080912 |
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