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

Genetic Testing

Volumn 12, Issue 3, 2008, Pages 395-399

  Kim, Gu Hwan ^a   Yang, Jeong Yoon ^b   Park, Jung Young ^b   Lee, Jin Joo ^a   Kim, Ju Hyun ^b   Yoo, Han Wook ^a,b  

^a University of Ulsan College of Medicine   (South Korea)

^b Asan Medical Center   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARAGINE; COPPER; LEUCINE; PHENYLALANINE; SERINE; VALINE;

ALLELE; ARTICLE; ATP7B GENE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; GENE; GENE AMPLIFICATION; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; KOREA; MAJOR CLINICAL STUDY; METABOLIC DISORDER; MISSENSE MUTATION; MULTIPLEX POLYMERASE CHAIN REACTION; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; CATION TRANSPORT PROTEINS; GENE FREQUENCY; GENETIC SCREENING; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE DETECTION; HUMANS; INCIDENCE; INFANT, NEWBORN; KOREA; MUTATION; MUTATION, MISSENSE; ORGANIC CHEMICALS; PAPER; POLYMERASE CHAIN REACTION; POPULATION GROUPS;

EID: 50649122968     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2008.0016     Document Type: Article

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