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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Wang, Kiarong, Zhao, Xiao, Chan, Shelly, Cil, Onur, He, Ning, Song, Xuewen, Paterson, Andrew D., Pei, York
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society of Nephrology 2009
Pynciau:
Hereditary Disease
Mynediad Ar-lein: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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