X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: Skewed in carriers of a duplication and random in carriers of point mutations

European Journal of Human Genetics

Volumn 8, Issue 6, 2000, Pages 449-454

  Woodward, Karen ^a   Kirtland, Karen ^a   Dlouhy, Stephen ^b   Raskind, Wendy ^c   Bird, Thomas ^c   Malcolm, Sue ^a   Abeliovich, Dvorah ^a,d  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b INDIANA UNIVERSITY   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Deletion; Duplication; Pelizaeus Merzbacher disease; PLP; PMD; X inactivation

Indexed keywords

ARTICLE; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE DUPLICATION; HETEROZYGOTE; HUMAN; HUMAN CELL; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

EID: 0034119909     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200480     Document Type: Article

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