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Article

[HNF1B-related disease: paradigm of a developmental gene and unexpected recognition of a new renal disease].

Nephrologie & therapeutique - 1 Nov 2013

Chauveau Dominique, Faguer Stanislas, Bandin Flavio, Guigonis Vincent, Chassaing Nicolas, Decramer Stéphane

Abstract excerpt

HNF1B encodes for a transcription factor involved in the early development of the kidney, pancreas, liver and genital tract. Mutations in HNF1B are dominantly inherited and consist of whole-gene deletion, or small mutation. De novo mutation occurs in half of tested kindreds. HNF1B-related disease...

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Source

Identifiers

PMID: 24119877
DOI: 10.1016/j.nephro.2013.05.004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24119877-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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