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Article

Identification of a KEAP1 germline mutation in a family with multinodular goitre.

PloS one - 1 Jan 2013

Teshiba Risa, Tajiri Tatsuro, Sumitomo Kenzo, Masumoto Kouji, Taguchi Tomoaki, Yamamoto Ken

Abstract excerpt

BACKGROUND: The familial clustering of multinodular goitres (MNGs) with a dominant mode of inheritance has been repeatedly reported. Linkage studies have revealed several genetic loci responsible for familial MNG; however, most of the causative variants remain unknown. METHODS AND RESULTS: Through linkage analysis using single-nucleotide polymorphism markers, we identified a new MNG locus on 19p13.2-q12 in a...

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Share to Chromosomes, Human, Pair 19
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Kelch-Like ECH-Associated Protein 1

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Source

Open in PubMed Open full text

Identifiers

PMID: 23724128
DOI: 10.1371/journal.pone.0065141
PMCID: PMC3665763

Genes

KEAP1
GCLC
GSTA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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