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ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients.

Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology - 1 Jan 2000

Santhosh S, Shaji R V, Eapen C E, Jayanthi V, Malathi S, Chandy M, Stanley M, Selvi S, Kurian G, Chandy G M

Abstract excerpt

OBJECTIVE: To analyze ATP7B mutations in Wilson's disease (WD) patients from the Indian subcontinent and to correlate these with WD phenotype. METHODS: We studied 27 WD patients from 25 unrelated families. Twenty-two families were from three southern Indian states - Tamil Nadu andhra Pradesh and Kerala. We applied conformation- sensitive gel electrophoresis (CSGE) to screen for the mutations in patients and their...

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PMID: 17264425

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

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