Effects of MECP2 mutation type, location and X-inactivation in modulating rett syndrome phenotype

American Journal of Medical Genetics

Volumn 118 A, Issue 2, 2003, Pages 103-114

  Weaving, Linda S ^a   Williamson, Sarah L ^a   Bennetts, Bruce ^a   Davis, Mark ^b   Ellaway, Carolyn J ^a   Leonard, Helen ^c   Thong, Meow Keong ^d   Delatycki, Martin ^d   Thompson, Elizabeth M ^e   Laing, Nigel ^b   Christodoulou, John ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

Epigenetic; MECP2 mutation; Methyl CpG binding protein 2; Rett syndrome; X inactivation

Indexed keywords

ADULT; ARTICLE; CHILD; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INFANT; MAJOR CLINICAL STUDY; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETT SYNDROME; SCORING SYSTEM; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKAGE; AUSTRALIA; CHEMISTRY; DATA BASE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION REGULATION; GENETIC POLYMORPHISM; GENETICS; GENOTYPE; MUTATION; PATHOLOGY; STOP CODON;

DNA; DNA BINDING PROTEIN; MECP2 PROTEIN, HUMAN; METHYL CPG BINDING PROTEIN 2; NONHISTONE PROTEIN; REPRESSOR PROTEIN;

AUSTRALIA; CHROMOSOMAL PROTEINS, NON-HISTONE; CODON, NONSENSE; DATABASES; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; DOSAGE COMPENSATION, GENETIC; FRAMESHIFT MUTATION; GENOTYPE; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MUTAGENESIS, INSERTIONAL; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; REPRESSOR PROTEINS; RETT SYNDROME; SEQUENCE DELETION;

EID: 0037824702     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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