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-Reference-Cited by-同舟云学术

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

Published:2008-09 Issue:3 Volume:12 Page:395-399
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Kim Gu-Hwan¹,Yang Jeong Yoon²,Park Jung-Young²,Lee Jin Joo¹,Kim Ju Hyun²,Yoo Han-Wook¹²³

Affiliation:

1. Medical Genetics Clinic and Laboratory, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

2. Genome Research Center for Birth Defects and Genetic Diseases, Asan Institute for Life Sciences, Asan Medical Center, Seoul, Korea.

3. Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.2008.0016

Reference15 articles.

1. The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene

2. High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.

3. Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease

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