Presence of the p.L456V polymorphism in Cuban patients clinically diagnosed with Wilson's disease.

doi:10.1016/j.rgmx.2018.03.005

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Article

Presence of the p.L456V polymorphism in Cuban patients clinically diagnosed with Wilson's disease.

Revista de gastroenterologia de Mexico (English) - 1 Jan 2000

Clark-Feoktistova Y, Ruenes-Domech C, García-Bacallao E F, Roblejo-Balbuena H, Feoktistova L, Clark-Feoktistova I, Jay-Herrera O, Collazo-Mesa T

Abstract excerpt

INTRODUCTION AND AIMS: Wilson's disease is characterized by the accumulation of copper in different organs, mainly affecting the liver, brain, and cornea, and is caused by mutations in the ATP7B gene. More than 120 polymorphisms in the ATP7B gene have been reported in the medical literature. The aim of the present study was to identify the conformational changes in the exon 3 region of the ATP7B gene and detect...

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PMID: 29898862
DOI: 10.1016/j.rgmx.2018.03.005

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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.