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...

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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1999
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377702/
https://ncbi.nlm.nih.gov/pubmed/9915943
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