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Article

[ATP7B gene mutations in Hungarian patients with Wilson disease--case reports to illustrate the diverse clinical presentations].

Orvosi hetilap - 21 Dec 2003

Folhoffer Anikó, Horváth Andrea, Hegedüs Dalma, Firneisz Gábor, Dunkel Kinga, Willheim Claudia, Ferenci Péter, Szönyi László, Abonyi Margit, Lakatos Péter László, Szalay Ferenc

Abstract excerpt

ATP7B gene mutations were examined in 70 Wilson patients from Hungary. 11 different mutations were found. In Hungary, similarly to other Central-Eastern European countries, the H1069Q was the most the frequent mutation, detected in 51 patients (73%) by semi-nested polymerase chain reaction (PCR)...

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PMID: 14974157

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14974157-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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