Using flourescence PCR analysis for early diagnosis and carriers detection of Chinese Wilson's disease

Chinese Journal of Medical Genetics

Volumn 18, Issue 1, 2001, Pages 17-20

  Huang, F ^a   Liang, X ^a   Xu, P ^a   Lin, Z ^a   Zhou, X ^a   Wang, Y ^a   Hou, G ^a   Cheng, G ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

Fluorescence polymerase chain reaction; Gene diagnosis; Gene mutation; Wilson's disease

Indexed keywords

ARTICLE; CHINESE; DNA SEQUENCE; EARLY DIAGNOSIS; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; PATHOGENESIS; POLYMERASE CHAIN REACTION; WILSON DISEASE; ADOLESCENT; FEMALE; FLUORESCENCE; GENETICS; MALE; MUTATION;

ADOLESCENT; FEMALE; FLUORESCENCE; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE DETECTION; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION;

EID: 0035116690     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. The Wilson's disease gene: Spectrum of mutations and their consequences
2. The Wilson's disease gene is a copper transporting ATPase with homology to the Menkes disease gene
3. Detection of the His 1069Gln mutation in Wilson's disease by rapid polymerase chain reaction
4. Screen for gene mutations in exon 8 and 14 of Wison disease with Chinese patients
5. Haplotype and mutation analysis in Japanese patients with Wilson's disease
6. Identification of mutation hotspot in exon 8 of Wilson's disease gene by cycle sequencing
7. Hot point mutations of Wilson disease gene in Chinese with DNA sequencing
8. Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism
9. Linkage analysis in Wilson's disease and microsatellite DNA