Familial skewed X-chromosome inactivation linked to a component of the cohesin complex, SA2

Journal of Human Genetics

Volumn 56, Issue 5, 2011, Pages 390-397

  Renault, Nisa K E ^a,c   Renault, Marc P ^b   Copeland, Emily ^a   Howell, Robin E ^a   Greer, Wenda L ^a  

^a DALHOUSIE UNIVERSITY   (Canada)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c INSTITUT PASTEUR   (France)

Author keywords

cohesin; haemophilia A; human XCE; manifesting carrier; SA2; skewed X chromosome inactivation

Indexed keywords

COHESIN;

ARTICLE; BLEEDING DISORDER; CANADA; CELL POPULATION; CHROMOSOME INACTIVATION; CLINICAL ARTICLE; DISEASE CARRIER; DISEASE SEVERITY; FAMILIAL DISEASE; FAMILY; FEMALE; GENETIC TRAIT; HEMOPHILIA A; HUMAN; MALE; MAMMAL; MOSAICISM; RECESSIVE GENE; SOMATIC CELL; X CHROMOSOME; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

CANADA; CELL CYCLE PROTEINS; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOMES, HUMAN, X; FACTOR VIII; FEMALE; GENETIC LINKAGE; GENOTYPE; HEMOPHILIA A; HUMANS; MALE; MUTATION; PEDIGREE; X CHROMOSOME INACTIVATION;

MAMMALIA;

EID: 79957624116     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.25     Document Type: Article

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