Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots

American Journal of Human Genetics

Volumn 65, Issue 6, 1999, Pages 1520-1529

  Wan, Mimi ^a   Lee, Stephen Sung Jae ^a   Zhang, Xianyu ^a   Houwink Manville, Isa ^b   Song, Hae Ri ^b   Amir, Ruthie E ^g   Budden, Sarojini ^c   Naidu, SakkuBai ^d   Pereira, Jose Luiz P ^e   Lo, Ivan F M ^f   Zoghbi, Huda Y ^g   Schanen, N Carolyn ^b   Francke, Uta ^a,h  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d DEPARTMENT OF PATHOLOGY   (United States)

^e FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

^f DEPARTMENT OF HEALTH   (Hong Kong)

^g BAYLOR COLLEGE OF MEDICINE   (United States)

^h STANFORD UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; FAMILIAL INCIDENCE; FEMALE; GENE DELETION; GENE MUTATION; GENE REPRESSION; GENETIC CONSERVATION; GENETIC TRANSCRIPTION; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; X CHROMOSOME INACTIVATION;

EID: 0033365401     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302690     Document Type: Article

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