Mental Health Law Weekly
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University of Brno Hospital
ATP7B gene is correlated with Wilson disease
December 17th, 2005
A study from the Czech Republic has chronicled mutation analysis of the ATP7B gene and genotype/phenotype correlation in patients with Wilson disease (WD). "WD is an autosomal recessive disorder of copper transport. WD patients are presenting with a wide range of heterogeneous clinical syndromes including hepatic, neurological, or psychiatric presentations," wrote S. Vrabelova and colleagues of the University of Brno Hospital. "The disease is caused by mutations in the ATP7B gene. This study presents the results of comprehensive mutation analysis in 227 WD patients from 200 unrelated families (173 from Czech Republic and 27 from Slovakia)." ...
Source: Mental Health Law Weekly (2005-12-17)
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