Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C > T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients

Laboratory Investigation

Volumn 84, Issue 1, 2004, Pages 122-130

  Götting, Christian ^a   Schulz, Veronika ^a   Hendig, Doris ^a   Grundt, Alexander ^a   Dreier, Jens ^a   Szliska, Christiane ^b   Brinkmann, Thomas ^a   Kleesiek, Knut ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b Krankenhaus Bethesda   (Germany)

Author keywords

ABCC6 gene mutation; Multidrug resistance associated protein MRP6; Pseudoxanthoma elasticum; Rapid cycle PCR assay

Indexed keywords

DNA; ENDONUCLEASE; ABCC6 PROTEIN, HUMAN; MULTIDRUG RESISTANCE PROTEIN;

ABCC6 GENE; ADULT; ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; EXON; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC IDENTIFICATION; GENOTYPE; HUMAN; MALE; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; REAL TIME POLYMERASE CHAIN REACTION; RISK FACTOR; GENETICS; METABOLISM; METHODOLOGY; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PATHOLOGY; POINT MUTATION; POLYMERASE CHAIN REACTION; REPRODUCIBILITY;

ADULT; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; POINT MUTATION; POLYMERASE CHAIN REACTION; PSEUDOXANTHOMA ELASTICUM; REPRODUCIBILITY OF RESULTS;

EID: 85047689707     PISSN: 00236837     EISSN: 15300307     Source Type: Journal    
DOI: 10.1038/labinvest.3700004     Document Type: Article

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