Hepatolenticular Degeneration

Research data from University of Heidelberg update understanding of hepatolenticular degeneration

Published in Gastroenterology Week, June 9th, 2008

In this recent study, researchers in Heidelberg, Germany conducted a study "To analyze the metallochaperone antioxidant-1 (Atox1) gene sequence in Wilson disease patients. Mutation analysis of the four exons of the Atox1 gene including the intron- exon boundaries was performed in 63 Wilson disease patients by direct sequencing."

"From 63 selected patients no mutations were identified after the entire coding region including the intron- exon boundaries of Atox1 were sequenced. One known polymorphism within the Atox1 gene (5'UTR -99 T> C) in 31 (49%) of the Wilson patients as well as one previously undescribed variation (5'UTR -68 C> T) in 2 of the Wilson patients...

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Source: Gastroenterology Week (2008-06-09)

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