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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Mol Genet Genomic Med |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
John Wiley and Sons Inc.
2019
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| Θέματα: | |
| Διαθέσιμο 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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