Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing

BACKGROUND/AIMS: Diagnosing hepatocyte nuclear factor 1β (HNF1B)-related disease is a challenging task due to the phenotypic variability and frequent absence of a family history. An HNF1B score has recently been developed to help select appropriate patients for genetic testing with a negative predic...

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Detalles Bibliográficos
Autores principales: Clissold, Rhian, Shields, Beverley, Ellard, Sian, Hattersley, Andrew, Bingham, Coralie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2015
Materias:
Experimental Nephrology and Genetics: Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822678/
https://www.ncbi.nlm.nih.gov/pubmed/26022541
http://dx.doi.org/10.1159/000398819

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822678/
https://www.ncbi.nlm.nih.gov/pubmed/26022541
http://dx.doi.org/10.1159/000398819

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