New mutation (T1232P) of the ATP-7B gene associated with neurologic and neuropsychiatric dominance onset of Wilson's disease in three unrelated Colombian kindred.

Abstract excerpt

Wilson's disease is an autosomal recessive disorder of hepatic copper metabolism caused by mutations in a gene encoding a copper-transporting P-type ATPase. We report the clinical and molecular characterization of six members from three unrelated Colombian kindred. Completed sequence DNA analysis linked to the gene ATP-7B from patient wd-1 revealed a novel A to C transversion in exon 17 at position 3856 (A3856C)...

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