Diagnostic DHPLC Quality Assurance (DDQA): A collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories

Human Mutation

Volumn 25, Issue 6, 2005, Pages 583-592

  Schollen, Els ^a   Dequeker, Elisabeth ^a   McQuaid, Shirley ^c   Vankeirsbilck, Bruno ^a   Michils, Geneviève ^a   Harvey, John ^b   Van Den Akker, Eric ^d   Van Schooten, Ron ^d   Clark, Zandra ^e   Schrooten, Stephan ^e   Matthijs, Gert ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b National Genetic Reference Laboratory   (United Kingdom)

^c OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e ZA la Clef Saint Pierre   (France)

Author keywords

DHPLC; MECP2; Mutation detection; Quality control; Rett syndrome; SOP; Standard operating procedure

Indexed keywords

ARTICLE; CLINICAL GENETICS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; QUALITY CONTROL; STANDARD;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COOPERATIVE BEHAVIOR; DNA MUTATIONAL ANALYSIS; GENETIC SCREENING; GENETIC TESTING; GENETICS, MEDICAL; HUMANS; LABORATORIES; METHYL-CPG-BINDING PROTEIN 2; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; NUCLEIC ACID DENATURATION; QUALITY CONTROL; REPRODUCIBILITY OF RESULTS; RESEARCH DESIGN;

EID: 20344380185     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20182     Document Type: Article

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