Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication

Human Mutation

Volumn 24, Issue 2, 2004, Pages 172-177

  Ariani, Francesca ^a   Mari, Francesca ^a   Pescucci, Chiara ^a   Longo, Ilaria ^a   Bruttini, Mirella ^a   Meloni, Ilaria ^a   Hayek, Giuseppe ^b   Rocchi, Raffaele ^a   Zappella, Michele ^b   Renieri, Alessandra ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY HOSPITAL OF SIENA   (Italy)

Author keywords

MECP2; PSV; Quantitative PCR; Rett syndrome; RTT

Indexed keywords

PRIMER DNA; RIBONUCLEASE P; TAQ POLYMERASE;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA PROBE; EXON; FEMALE; GENE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE LOCUS; GENE REARRANGEMENT; GENETIC SCREENING; HUMAN; INTRON; MECP2 GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; QUANTITATIVE ASSAY; REAL TIME POLYMERASE CHAIN REACTION; RELIABILITY; RETT SYNDROME; SPEECH; VALIDATION PROCESS;

ADULT; CHROMOSOMAL PROTEINS, NON-HISTONE; COMPUTER SYSTEMS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC SCREENING; HUMANS; MALE; METHYL-CPG-BINDING PROTEIN 2; POLYMERASE CHAIN REACTION; REPRESSOR PROTEINS; RETT SYNDROME;

EID: 3442895308     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20065     Document Type: Article

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