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

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    URI
    http://hdl.handle.net/11287/618112
    Author
    Clissold, Rhian L.
    Shields, Beverley
    Ellard, Sian
    Hattersley, Andrew T.
    Bingham, Coralie
    Date
    2015-05-22
    Journal
    Nephron
    Type
    Journal Article
    Research Support, Non-U.S. Gov't
    Publisher
    Karger
    DOI
    10.1159/000398819
    Rights
    Archived with thanks to Nephron
    Metadata
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    Abstract
    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 predictive value (NPV) of 99%. We aimed at testing the clinical utility of this score in a large number of referrals for HNF1B genetic testing to the UK diagnostic testing service for the HNF1B gene.
    Citation
    Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing. 2015, 130 (2):134-40 Nephron
    Publisher URL
    http://www.karger.com/?DOI=10.1159/000398819
    Note
    This article is freely available from the publisher's site - click on the 'Additional Link' above to access the full text.
    Collections
    • 2015 RD&E publications
    • Diabetes/Endocrine Services
    • Exeter Kidney Unit (Renal)
    • Honorary contracts publications

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