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A novel mutation in a Chinese family with autosomal recessive Alport syndrome: a case report
Alport syndrome (AS) is a familial hereditary nephropathy which is characterized by molecular abnormalities in Collagen IV a345. As more gene mutations are discovered, it has been reported that autosomal recessive disease accounts for a smaller proportion (about 4%) of AS patients than previously re...
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| Publicat a: | Int J Clin Exp Pathol |
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| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
e-Century Publishing Corporation
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6949818/ https://ncbi.nlm.nih.gov/pubmed/31934206 |
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