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Article

Improving HNF1β mutation detection rates: can a weighted score of clinical and familial characteristics help?

Kidney international - 1 Nov 2014

Hopp Katharina

Abstract excerpt

Maturity-onset diabetes of the young type 5 (MODY5) presents with incomplete penetrance and phenotypic heterogeneity, often resulting in misdiagnosis with other renal disorders. Hence, HNF1β mutation detection rates in MODY5-like patients are low (∼15%) and standards for mutation analysis are lacking. Faguer et al. established a composite score evaluating the most frequent and specific features of MODY5. Further,...

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PMID: 25360493
DOI: 10.1038/ki.2014.245

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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