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Article

Serum amino acids in patients with mutations in the hepatocyte nuclear factor-1 alpha gene.

Diabetic medicine : a journal of the British Diabetic Association - 1 Aug 2004

Stride A, Pearson E R, Brown A, Gooding K, Castleden H A J, Hattersley A T

Abstract excerpt

AIMS: Knockout mice lacking both copies of the hepatocyte nuclear factor 1 (HNF1) gene have altered serum levels of amino acids and generalized aminoaciduria. The aim of our study was to test whether alterations in serum amino acid levels were found in patients with mutations in the hepatocyte nuclear factor-1 alpha (HNF-1alpha) gene compared with controls. METHODS: Fasting serum from 20 patients with HNF-1alpha...

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Source

Identifiers

PMID: 15270800
DOI: 10.1111/j.1464-5491.2004.01107.x

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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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