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Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis.

It is not known whether mutations in the PKD1 gene cause autosomal dominant polycystic kidney disease (PKD) by an activating (gain-of-function) or an inactivating (loss-of-function) model. We analyzed DNA from cyst epithelial cells for loss of heterozygosity (LOH) in the PKD1 region of chromosome 16...

詳細記述

保存先:
書誌詳細
主要な著者: Brasier, J L, Henske, E P
フォーマット: Artigo
言語:Inglês
出版事項: 1997
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC507786/
https://ncbi.nlm.nih.gov/pubmed/9005987
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