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Article

Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).

American journal of medical genetics. Part A - 1 Dec 2004

Panagiotakaki Eleni, Tzetis Maria, Manolaki Nina, Loudianos Giorgos, Papatheodorou Athanasios, Manesis Emmanuel, Nousia-Arvanitakis Sanda, Syriopoulou V, Kanavakis Emmanuel

Abstract excerpt

Wilson disease (WND) is caused by mutations in the ATP7B gene and exhibits substantial allelic heterogeneity. In this study we report the results of molecular analyses of 20 WND families not described previously. When combined with our prior results, the cohort includes 93 index patients from 69...

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PMID: 15523622
DOI: 10.1002/ajmg.a.30345

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15523622-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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