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Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique
BACKGROUND: Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis by routine PCR‐based approaches. In recent years, the developm...
Zapisane w:
| Wydane w: | Mol Genet Genomic Med |
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| Główni autorzy: | , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
John Wiley and Sons Inc.
2019
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6565573/ https://ncbi.nlm.nih.gov/pubmed/30968591 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.653 |
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