MECP2 deletions and genotype-phenotype correlation in Rett syndrome

American Journal of Medical Genetics, Part A

Volumn 143, Issue 23, 2007, Pages 2775-2784

  Scala, Elisa ^a   Longo, Ilaria ^a   Ottimo, Federica ^a   Speciale, Caterina ^a   Sampieri, Katia ^a   Katzaki, Eleni ^a   Artuso, Rosangela ^a   Mencarelli, Maria Antonietta ^a   D'Ambrogio, Tatiana ^b   Vonella, Giuseppina ^b   Zappella, Michele ^b   Hayek, Giuseppe ^b   Battaglia, Agatino ^c   Mari, Francesca ^a   Renieri, Alessandra ^a   Ariani, Francesca ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b General Hospital   (Italy)

^c DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

IRAK1; MECP2; Multiplex ligation dependent probe amplification; Preserved speech variant; Rett syndrome

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FEMALE; GENE DELETION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE; HEMIZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RETT SYNDROME;

BASE SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA PRIMERS; EXONS; FEMALE; GENE DELETION; GENOTYPE; HUMANS; MALE; METHYL-CPG-BINDING PROTEIN 2; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RETT SYNDROME; X CHROMOSOME INACTIVATION;

EID: 36849060323     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32002     Document Type: Article

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