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Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome
Alport syndrome (AS) is a clinically and genetically heterogeneous, progressive nephropathy caused by mutations in COL4A3, COL4A4, and COL4A5, which encode type IV collagen. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis by routine polymeras...
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| Pubblicato in: | PLoS One |
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| Autori principali: | , , , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Public Library of Science
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5436713/ https://ncbi.nlm.nih.gov/pubmed/28542346 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0177685 |
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