Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2

Nature Genetics

Volumn 23, Issue 2, 1999, Pages 185-188

  Amir, Ruthie E ^a   Van Den Veyver, Ignatia B ^a   Wan, Mimi ^b   Tran, Charles Q ^a   Francke, Uta ^b   Zoghbi, Huda Y ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; HISTONE DEACETYLASE; METHYL GROUP;

ARTICLE; CHROMOSOMAL LOCALIZATION; CHROMOSOME MOSAICISM; CLINICAL FEATURE; DISEASE ACTIVITY; DISEASE COURSE; GENE MAPPING; GENE MUTATION; HUMAN; HUMAN CELL; INCIDENCE; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; RETT SYNDROME; TRANSCRIPTION REGULATION; X CHROMOSOME LINKED DISORDER;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; METHYL-CPG-BINDING PROTEIN 2; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POINT MUTATION; REPRESSOR PROTEINS; RETT SYNDROME; SEQUENCE HOMOLOGY, AMINO ACID; X CHROMOSOME;

ATAXIA; MAMMALIA;

EID: 0032830639     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/13810     Document Type: Article

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