Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system.

Abstract

Wilson's disease (WD), an autosomal recessive disorder of copper transport, is one of the most common inherited metabolic disorders in Korea. Despite its frequency, the incidence and carrier frequency of WD has not yet been estimated in the Korean population. We therefore screened for four major missense mutations (p.Arg778Leu, p.Ala874Val, p.Leu1083Phe… (More)
DOI: 10.1089/gte.2008.0016

Topics

Cite this paper

@article{Kim2008EstimationOW, title={Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system.}, author={Gu Hwan Kim and Jeong Yoon Yang and Jung-Young Park and Jin Joo Lee and Ju Hyun Kim and Han Wook Yoo}, journal={Genetic testing}, year={2008}, volume={12 3}, pages={395-9} }