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Article

Commentary on Vrabelova et al.

Molecular genetics and metabolism - 1 Jan 2000

Schmidt Hartmut H-J

Abstract excerpt

The paper by Vrabelova et al. reflects a comprehensive genetic approach in characterizing genetically patients with Wilson disease (WD). They studied mutations within ATP7B-the gene encoding the defective WD protein ATPase 7B-in 227 WD patients from 200 unrelated Czech and Slovak families, which represents a very large cohort for WD, and therefore, the impact of their findings are highly important. There are...

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PMID: 15996499
DOI: 10.1016/j.ymgme.2005.05.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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