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Article

Screening for mutations in ATP7B gene using conformation-sensitive gel electrophoresis in a family with Wilson's disease.

Medical science monitor : international medical journal of experimental and clinical research - 1 Mar 2007

Sundaresan Santhosh, Eapen Chundamannil Eapen, Shaji Ramachandran Velayutham, Chandy Mammen, Kurian George, Chandy George

Abstract excerpt

BACKGROUND: Wilson's disease (WD) is an autosomal recessive disorder leading to copper overload, mainly in the liver and brain, due to mutations in the ATP7B gene. About 10% of heterozygous carriers of ATP7B gene mutations have decreased serum ceruloplasmin, posing diagnostic difficulties. CASE R...

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PMID: 17325640

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17325640-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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