PMID- 10194254
OWN - NLM
STAT- MEDLINE
DCOM- 20000518
LR  - 20061115
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 16
IP  - 2
DP  - 1999 Apr
TI  - [Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese
      patients].
PG  - 91-3
AB  - OBJECTIVE: To investigate the characteristics of mutations of exons 14 and 18 of 
      Wilson's disease (WD) gene in Chinese patients. METHODS: The subjects of study
      included 60 unrelated normal controls and 44 unrelated WD patients. Genomic DNA
      was prepared from peripheral blood leukocytes by a salt-out method. Mutations of 
      exons 14 and 18 in these subjects were screened by polymerase chain
      reaction-single strand conformation polymorphism (PCR-SSCP) and further confirmed
      by sequencing. RESULTS: One patient was homozygous for Arg1041Pro mutation of
      exon 14 and another patient was heterozygous for Asn1270Ser mutation of exon 18. 
      CONCLUSION: The mutations of exons 14 and 18 of WD gene in Chinese patients were 
      confirmed by sequencing for the first time in China. Arg1041Pro was identified as
      a novel missense mutation. In addition, an Asn1270Ser, previously described
      mutation, was detected in this study. But exons 14 and 18 are not the hot point
      mutations of WD gene in Chinese patients.
FAU - Wu, Z
AU  - Wu Z
AD  - Institute of Neurological Sciences, Department of Neurology, First Affiliated
      Hospital of Fujian Medical University, Fujian, 350005, P. R. China. zhiying
      wu@163.net
FAU - Wang, N
AU  - Wang N
FAU - Murong, S
AU  - Murong S
FAU - Lin, M
AU  - Lin M
LA  - chi
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Exons
MH  - Female
MH  - Hepatolenticular Degeneration/*genetics
MH  - Humans
MH  - Male
MH  - *Mutation, Missense
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
EDAT- 2000/04/29 09:00
MHDA- 2000/05/20 09:00
CRDT- 2000/04/29 09:00
PHST- 2000/04/29 09:00 [pubmed]
PHST- 2000/05/20 09:00 [medline]
PHST- 2000/04/29 09:00 [entrez]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Apr;16(2):91-3.