21 226

Cited 0 times in

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

Authors
Kim, EK; Yoo, OJ; Song, KY; Yoo, HW; Choi, SY; Cho, SW; Hahn, SH
Citation
Human mutation, 11(4):275-278, 1998
Journal Title
Human mutation
ISSN
1059-77941098-1004
Abstract
Four mutations--R778L, A874V, L1083F, and 2304delC--in the copper-transporting enzyme, P-type ATPase (ATP7B), were identified in Korean Patients with Wilson disease. Arg778Leu, the most frequently reported mutation of this enzyme, was found in six of eight unrelated patients studied, an allele frequency of 37.5%, which is considerably higher than those in other Asian populations. The novel single nucleotide deletion, 2304delC, was found in one patient. Since a mutation at cDNA nucleotide 2302 (2302insC) had been previously described, this region of the ATP7B gene may be susceptible to gene rearrangements causing Wilson disease.
MeSH terms
Adenosine Triphosphatases/geneticsAllelesBase SequenceCarrier Proteins/geneticsCase-Control Studies*Cation Transport ProteinsDNA Primers/geneticsGene FrequencyHepatolenticular Degeneration/enzymology/*geneticsHumansKorea*MutationPoint MutationPolymerase Chain ReactionPolymorphism, Single-Stranded ConformationalSequence Deletion
DOI
10.1002/(SICI)1098-1004(1998)11:4<275::AID-HUMU4>3.0.CO;2-L
PMID
9554743
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
Journal Papers > School of Medicine / Graduate School of Medicine > Gastroenterology
AJOU Authors
조, 성원한, 시훈
Export
RIS (EndNote)
XLS (Excel)
XML

qrcode

해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse