A novel approach to CFTR mutation testing by pyrosequencing-based assay panels adapted to ethnicities

Clinical Chemistry

Volumn 55, Issue 6, 2009, Pages 1083-1091

  Bickmann, Julia K ^a   Kamin, Wolfgang ^a   Wiebel, Matthias ^b   Häuser, Friederike ^a   Wenzel, Jürgen J ^a   Neukirch, Carolin ^a   Stuhrmann, Manfred ^c   Lackner, Karl J ^a   Rossmann, Heidi ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACCURACY; ARTICLE; CFTR GENE; CONTROLLED STUDY; CYSTIC FIBROSIS; DIAGNOSTIC TEST; ETHNIC GROUP; ETHNICITY; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; GERMANY; HUMAN; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATION RATE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PYROSEQUENCING; RELIABILITY; SENSITIVITY ANALYSIS; SWEAT TEST; VALIDITY;

BASE SEQUENCE; CASE-CONTROL STUDIES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HETEROZYGOTE DETECTION; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 66449124979     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2008.120220     Document Type: Article

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