Φορτώνει......
Evidence for Pathogenicity of Atypical Splice Mutations in Autosomal Dominant Polycystic Kidney Disease
Background and objectives: Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by locus and allelic heterogeneity, large multi-exon gene structure and duplication in PKD1, and a high level of unclassified variants. Comprehensive screening of PK...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
American Society of Nephrology
2009
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2637591/ https://ncbi.nlm.nih.gov/pubmed/19158373 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.00980208 |
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