Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: Identification of novel mutations

Gene

Volumn 512, Issue 1, 2013, Pages 70-75

  Raymond, Laure ^a   Diebold, Bertrand ^a   Leroux, Céline ^a   Maurey, Hélène ^b   Drouin Garraud, Valérie ^b   Delahaye, Andre ^c   Dulac, Olivier ^b   Metreau, Julia ^b   Melikishvili, Gia ^d   Toutain, Annick ^b   Rivier, François ^e   Bahi Buisson, Nadia ^b,e,f   Bienvenu, Thierry ^a,e,f  

^a HÔpital Cochin   (France)

^b HÔpital Charles Nicolle ^*  (France)

^c HÔPITAL JEAN VERDIER   (France)

^d Mrcheveli laboratories   (Georgia)

^e INSERM   (France)

^f INSTITUT COCHIN   (France)

Author keywords

CDKL5; High resolution DNA melting analysis; Mutation scanning; Rett syndrome

Indexed keywords

CYCLIN DEPENDENT KINASE 5; DNA;

ARTICLE; COHORT ANALYSIS; COST EFFECTIVENESS ANALYSIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC POLYMORPHISM; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; INDEL MUTATION; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETT SYNDROME;

DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; MALE; MUTATION; PROTEIN-SERINE-THREONINE KINASES; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 84868628060     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.09.056     Document Type: Article

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