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

Journal of human genetics - 1 Sept 2017

Jang Ja-Hyun, Lee Taeheon, Bang Sunghee, Kim Young-Eun, Cho Eun-Hae

Abstract excerpt

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 sequencing of 1090 control individuals to estimate carrier frequency. TaqMan real-time PCR assays were conducted to detect six...

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PMID: 28515472
DOI: 10.1038/jhg.2017.49

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