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Article

Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients.

The Journal of investigative dermatology - 1 Jan 2014

Sturm Richard A, Fox Carly, McClenahan Phil, Jagirdar Kasturee, Ibarrola-Villava Maider, Banan Parastoo, Abbott Nicola C, Ribas Gloria, Gabrielli Brian, Duffy David L, Peter Soyer H

Abstract excerpt

A germline polymorphism of the microphthalmia transcription factor (MITF) gene encoding a SUMOylation-deficient E318K-mutated protein has recently been described as a medium-penetrance melanoma gene. In a clinical assessment of nevi from 301 volunteers taken from Queensland, we identified six ind...

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Source

Identifiers

PMID: 23774529
DOI: 10.1038/jid.2013.272

Genes

MITF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23774529-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients.PMID 23774529Read ↗

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