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Article

Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.

Liver international : official journal of the International Association for the Study of the Liver - 1 Jul 2011

Lee Beom H, Kim Joo H, Lee Sun Y, Jin Hye Y, Kim Kwi-Joo, Lee Jin-Joo, Park Jung-Young, Kim Gu-Hwan, Choi Jin-Ho, Kim Kyung M, Yoo Han-Wook

Abstract excerpt

INTRODUCTION AND AIMS: Wide phenotypic and genotypic heterogeneities in Wilson's disease (WD) have been reported, hampering the study of their correlations. The goal of this study was to identify the factors related to these diversities. METHODS: Clinical courses and molecular genetic characteristics were analysed in 237 unrelated Korean WD families. The average follow-up period was 8.2 ± 5.8 years. RESULTS:...

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Source

Identifiers

PMID: 21645214
DOI: 10.1111/j.1478-3231.2011.02503.x

Genes

ATOX1
COMMD1

Variants

Provenance

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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