Article
Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.
Cellular and molecular neurobiology - 1 Dec 2007
Gupta Arnab, Chattopadhyay Ishita, Dey Sumit, Nasipuri Poonam, Das Shyamal K, Gangopadhyay Prasanta K, Ray Kunal
Abstract excerpt
AIMS: We aim to identify the molecular defects in the ATP7B, the causal gene for Wilson disease (WD), in eastern Indian patients and attempt to assess the overall mutation spectrum in India for detection of mutant allele for diagnostic purposes. METHODS: Patients from 109 unrelated families and t...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.