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A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome
Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy. Approximately 80% of Alport syndrome cases are caused by X-linked mutations in the COL4A5 gene encoding type IV collagen. The objective of this s...
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| Publicat a: | PLoS One |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Public Library of Science
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4500592/ https://ncbi.nlm.nih.gov/pubmed/26168235 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0132010 |
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