Identification of Gene Mutations in Autosomal Dominant Polycystic Kidney Disease through Targeted Resequencing

Mutations in two large multi-exon genes, PKD1 and PKD2, cause autosomal dominant polycystic kidney disease (ADPKD). The duplication of PKD1 exons 1–32 as six pseudogenes on chromosome 16, the high level of allelic heterogeneity, and the cost of Sanger sequencing complicate mutation analysis, which c...

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Detalhes bibliográficos
Main Authors: Rossetti, Sandro, Hopp, Katharina, Sikkink, Robert A., Sundsbak, Jamie L., Lee, Yean Kit, Kubly, Vickie, Eckloff, Bruce W., Ward, Christopher J., Winearls, Christopher G., Torres, Vicente E., Harris, Peter C.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2012
Assuntos:
Clinical Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3338301/
https://ncbi.nlm.nih.gov/pubmed/22383692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2011101032
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