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Article

p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?

Annales d'endocrinologie - 1 Jul 2014

Nozières Cecile, Zhang Chang-Xian, Buffet Alexandre, Dupasquier Stéphanie, Vargas-Poussou Rosa, Guillaud-Bataille Marine, Cordier-Bussat Martine, Ruszniewski Philippe, Christin-Maitre Sophie, Murat Arnaud, Groussin Lionel, Vezzosi Delphine, Cardot-Bauters Catherine, Hervieu Valérie, Joly Marie-Odile, Giraud Sophie, Odou Marie-Françoise, Gimenez-Roqueplo Anne-Paule, Goudet Pierre, Borson-Chazot Françoise, Calender Alain

Abstract excerpt

CONTEXT: Multiple Endocrine Neoplasia Type 1 (MEN1) is an autosomal dominant inherited syndrome, related to mutations in the MEN1 gene. Controversial data suggest that the nonsynonymous p.Ala541Thr variant, usually considered as a non-pathogenic polymorphism, may be associated with an increased r...

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Source

Identifiers

PMID: 24997771
DOI: 10.1016/j.ando.2014.05.003

Genes

MEN1
LCT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24997771-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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