Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.

Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal recessive disorder that is caused by mutations in the recently discovered nephrin gene, NPHS1 (AF035835). The disease, which belongs to the Finnish disease heritage, exists predominantly in Finland, but many cases have been ob...

詳細記述

保存先:
書誌詳細
主要な著者: Lenkkeri, U, Männikkö, M, McCready, P, Lamerdin, J, Gribouval, O, Niaudet, P M, Antignac C, K, Kashtan, C E, Homberg, C, Olsen, A, Kestilä, M, Tryggvason, K
フォーマット: Artigo
言語:Inglês
出版事項: 1999
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377702/
https://ncbi.nlm.nih.gov/pubmed/9915943
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