Rapid detection of the Wilson's disease H1069Q mutation by melting curve analysis with the LightCycler

Clinical Chemistry and Laboratory Medicine

Volumn 39, Issue 10, 2001, Pages 953-955

  Witt, H ^a   Landt, O ^a  

^a HUMBOLDT UNIVERSITY   (Germany)

Author keywords

ATP7B; Genes; Genetic screening; Melting curve analysis; PCR; Wilson's disease

Indexed keywords

COPPER; DNA; GLUTAMINE; HISTIDINE; RESTRICTION ENDONUCLEASE;

AMINO ACID SUBSTITUTION; ARTICLE; ASSAY; CAUCASIAN; CLINICAL PROTOCOL; CODON; CONTROLLED STUDY; DNA PROBE; DNA SEQUENCE; ENERGY TRANSFER; ENZYME DEGRADATION; FLUORESCENCE; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MEDICAL DOCUMENTATION; PRIORITY JOURNAL; RELIABILITY; SAMPLE; TECHNIQUE; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; BASE SEQUENCE; CATION TRANSPORT PROTEINS; DNA; DNA MUTATIONAL ANALYSIS; FLUORESCENT DYES; GENETIC SCREENING; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; NUCLEIC ACID CONFORMATION; POINT MUTATION;

EID: 0035169906     PISSN: 14346621     EISSN: None     Source Type: Journal    
DOI: 10.1515/CCLM.2001.153     Document Type: Article

References (8)

1. Wilson disease: Genetic basis of copper toxicity and natural history
2. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
3. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
4. The Wilson disease gene: Spectrum of mutations and their consequences
5. Efficient detection of mutations in Wilson disease by manifold sequencing
6. Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analysis
7. Wilson's disease in patients presenting with liver disease: A diagnostic challenge
8. Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction