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Article

R778L, H1069Q, and I1102T mutation study in neurologic Wilson disease.

Neurology India - 1 Jan 2000

Kalita Jayantee, Somarajan Bindu I, Misra Usha K, Mittal Balraj

Abstract excerpt

There is paucity of the studies on mutations in neurologic Wilson disease (WD) in India. We studied H1069Q, R778L, I1102T mutations in 26 patients with neurologic WD from 25 families in north India. The basis of diagnosis of neurologic WD was clinical, Kayser-Fleischer (KF) ring, and ceruloplasmin. Data collected included: family history, clinical characteristics, laboratory data, ultrasound findings, magnetic...

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PMID: 20739809
DOI: 10.4103/0028-3886.68678

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