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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Genetic Testing
Article . 2008 . Peer-reviewed
License: Mary Ann Liebert TDM
Data sources: Crossref
Genetic Testing
Article . 2008
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Estimation of Wilson's Disease Incidence and Carrier Frequency in the Korean Population by ScreeningATP7BMajor Mutations in Newborn Filter Papers Using the SYBR Green Intercalator Method Based on the Amplification Refractory Mutation System

Authors: Gu-Hwan, Kim; Jeong Yoon, Yang; Jung-Young, Park; Jin Joo, Lee; Ju Hyun, Kim; Han-Wook, Yoo;

Estimation of Wilson's Disease Incidence and Carrier Frequency in the Korean Population by ScreeningATP7BMajor 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, and p.Asn1270Ser) of the ATP7B gene in 476 newborn filter papers by real-time multiplex PCR and melting curve analysis using the SYBR Green intercalator method based on the amplification refractory mutation system test. Newborn filter papers with abnormal melting curves were subjected to subsequent sequence analysis. Three mutated alleles, one p.Arg778Leu and two p.Ala874Val, were detected among the 476 newborn filter papers (952 alleles). The carrier frequency and incidence of WD in the Korean population were determined as 1 in 88.2 and 30,778, respectively, by reversely calculating based on the Hardy-Weinberg law.

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Keywords

Adenosine Triphosphatases, Paper, Korea, Genetic Carrier Screening, Incidence, Infant, Newborn, Mutation, Missense, Polymerase Chain Reaction, Gene Frequency, Hepatolenticular Degeneration, Population Groups, Copper-Transporting ATPases, Mutation, Humans, Genetic Testing, Organic Chemicals, Cation Transport Proteins

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
36
Top 10%
Top 10%
Top 10%