Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach

Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B gene mutation. The frequency of WD is about 1 in 30 000 worldwide. In the present study, we screened 14 835 dried blood spots (DBSs) from asymptomatic Korean neonates and retrospectively reviewed massively parallel sequenc...

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Bibliographic Details
Published in:	Journal of human genetics Vol. 62; no. 9; pp. 815 - 818
Main Authors:	Jang, Ja-Hyun, Lee, Taeheon, Bang, Sunghee, Kim, Young-Eun, Cho, Eun-Hae
Format:	Journal Article
Language:	English
Published:	England Nature Publishing Group 01-09-2017
Subjects:	Alleles Asian Continental Ancestry Group - genetics ATP7B gene Copper-transporting ATPases - genetics Deoxyribonucleic acid DNA Female Gene Frequency Genetic screening Genetic Testing Hepatolenticular Degeneration - epidemiology Hepatolenticular Degeneration - genetics Hereditary diseases Heterozygote Humans Mutants Mutation Neonates Patients Point mutation Population Surveillance Real-Time Polymerase Chain Reaction Republic of Korea - epidemiology Retrospective Studies Wilson's disease Republic of Korea
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