Mutations in the Hepatocyte Nuclear Factor-1β Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney Disease

Familial glomerulocystic kidney disease (GCKD) is a dominantly inherited condition characterized by glomerular cysts and variable renal size and function; the molecular genetic etiology is unknown. Mutations in the gene encoding hepatocyte nuclear factor (HNF)–1β have been associated with early-onse...

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Autores principales: Bingham, Coralie, Bulman, Michael P., Ellard, Sian, Allen, Lisa I. S., Lipkin, Graham W., Hoff, William G. van't, Woolf, Adrian S., Rizzoni, Gianfranco, Novelli, Giuseppe, Nicholls, Anthony J., Hattersley, Andrew T.
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2001
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1234916/
https://ncbi.nlm.nih.gov/pubmed/11085914
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