Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: New guidelines and a proposal for routine diagnosis

Journal of Molecular Diagnostics

Volumn 14, Issue 1, 2012, Pages 46-55

  Bilan, Frédéric ^a,b   Legendre, Marine ^a,b   Charraud, Valérie ^a   Manière, Barbara ^a,b   Couet, Dominique ^a   Gilbert Dussardier, Brigitte ^a   Kitzis, Alain ^a,b  

^a POITIERS UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE POITIERS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMODOMAIN HELICASE DNA BINDING PROTEIN 7; DNA BINDING PROTEIN; UNCLASSIFIED DRUG;

AMPLICON; ARTICLE; CLINICAL ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE DELETION; GENE DOSAGE; GENE REARRANGEMENT; GENETIC SCREENING; HUMAN; INTRON; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRACTICE GUIDELINE; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME CHARGE;

CHARGE SYNDROME; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COMPUTER SIMULATION; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXONS; GENE DOSAGE; GENE REARRANGEMENT; GENETIC TESTING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MODELS, GENETIC; MUTATION; PRACTICE GUIDELINES AS TOPIC;

EID: 84555195966     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2011.08.003     Document Type: Article

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