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The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a ß cell phenotype.
Hamilton, Alexander J; Bingham, Coralie; McDonald, Timothy J; Cook, Paul R; Caswell, Richard C; Weedon, Michael N; Oram, Richard A; Shields, Beverley M; Shepherd, Maggie; Inward, Carol D; Hamilton-Shield, Julian P; Kohlhase, Jürgen; Ellard, Sian; Hattersley, Andrew T.
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  • Hamilton AJ; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, UK.
J Med Genet ; 51(3): 165-9, 2014 Mar.
Article in En | MEDLINE | ID: mdl-24285859
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hepatocyte Nuclear Factor 4 / Fanconi Syndrome / Mutation Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: J Med Genet Year: 2014 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hepatocyte Nuclear Factor 4 / Fanconi Syndrome / Mutation Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: J Med Genet Year: 2014 Document type: Article