Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases | Zendy

Laurence Heidet | Zendy; Stéphane Decramer | Zendy; Audrey Pawtowski | Zendy; Vincent Morinière | Zendy; Isabel Bandı́n | Zendy; Bertrand Knebelmann | Zendy; Anne-Sophie Lèbre | Zendy; Stanislas Faguer | Zendy; Vincent Guigonis | Zendy; Corinne Antignac | Zendy; Rémi Salomon | Zendy

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Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases

Author(s) -

Laurence Heidet,

Stéphane Decramer,

Audrey Pawtowski,

Vincent Morinière,

Isabel Bandı́n,

Bertrand Knebelmann,

Anne-Sophie Lèbre,

Stanislas Faguer,

Vincent Guigonis,

Corinne Antignac,

Rémi Salomon

Publication year - 2010

Publication title -

clinical journal of the american society of nephrology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.755

H-Index - 151

eISSN - 1555-905X

pISSN - 1555-9041

DOI - 10.2215/cjn.06810909

Subject(s) - hnf1b , medicine , renal dysplasia , kidney , kidney disease , proband , urinary system , gastroenterology , pathology , endocrinology , mutation , genetics , biology , gene expression , gene , homeobox

Hepatocyte nuclear factor 1beta (HNF1beta) is a transcription factor that is critical for the development of kidney and pancreas. In humans, mutations in HNF1B lead to congenital anomalies of the kidney and urinary tract, pancreas atrophy, and maturity-onset diabetes of the young type 5 and genital malformations.

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