Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome

Brain and Development

Volumn 23, Issue SUPPL. 1, 2001, Pages

  Van Den Veyver, Ignatia B ^a   Zoghbi, Huda Y ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Rett syndrome; MECP2; Methyl CpG binding domain; Mutations; Transcription repression domain; X linked dominant; Xq28

Indexed keywords

MESSENGER RNA; METHYL CPG BINDING PROTEIN 2; UNCLASSIFIED DRUG;

BRAIN DEVELOPMENT; CASE REPORT; CONFERENCE PAPER; DEVELOPMENT; DNA METHYLATION; FEMALE; GENE MUTATION; HUMAN; MISSENSE MUTATION; PHENOTYPE; RETT SYNDROME; TRANSCRIPTION REGULATION; X CHROMOSOME DOMINANT INHERITANCE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA-BINDING PROTEINS; DOSAGE COMPENSATION, GENETIC; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; METHYL-CPG-BINDING PROTEIN 2; MUTATION; PHENOTYPE; REPRESSOR PROTEINS; RETT SYNDROME;

EID: 0035192456     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(01)00376-X     Document Type: Conference Paper

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