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X-Linked Alport Syndrome Caused by Splicing Mutations in COL4A5
BACKGROUND AND OBJECTIVES: X-linked Alport syndrome is caused by mutations in the COL4A5 gene. Although many COL4A5 mutations have been detected, the mutation detection rate has been unsatisfactory. Some men with X-linked Alport syndrome show a relatively mild phenotype, but molecular basis investig...
Zapisane w:
| Wydane w: | Clin J Am Soc Nephrol |
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| Główni autorzy: | , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
American Society of Nephrology
2014
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4220764/ https://ncbi.nlm.nih.gov/pubmed/25183659 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.04140414 |
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