X chromosome inactivation in a female carrier of a 1.28 Mb deletion encompassing the human X inactivation centre.

de Hoon, B; Splinter, Erik; Eussen, B; Douben, J C W; Rentmeester, E; van de Heijning, M; Laven, J S E; de Klein, J E M M; Liebelt, J; Gribnau, J

de Hoon, B; Splinter, Erik; Eussen, B; Douben, J C W; Rentmeester, E; van de Heijning, M; Laven, J S E; de Klein, J E M M; Liebelt, J; Gribnau, J.

Afiliação

de Hoon B; Department of Developmental Biology, Rotterdam, The Netherlands.
Splinter E; Cergentis B.V., Utrecht, The Netherlands.
Eussen B; Department of Clinical Genetics, Rotterdam, The Netherlands.
Douben JCW; Department of Clinical Genetics, Rotterdam, The Netherlands.
Rentmeester E; Department of Developmental Biology, Rotterdam, The Netherlands.
van de Heijning M; Cergentis B.V., Utrecht, The Netherlands.
Laven JSE; Department of Obstetrics and Gynaecology, Erasmus MC, Rotterdam, The Netherlands.
de Klein JEMM; Department of Clinical Genetics, Rotterdam, The Netherlands.
Liebelt J; Division of Genetics and Molecular Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia jan.liebelt@sa.gov.au.
Gribnau J; Department of Developmental Biology, Rotterdam, The Netherlands j.gribnau@erasmusmc.nl.

Philos Trans R Soc Lond B Biol Sci ; 372(1733)2017 Nov 05.

Article em En | MEDLINE | ID: mdl-28947658

Assuntos

Cromossomos Humanos X/genética; Inativação do Cromossomo X/genética; Adulto; Animais; Feminino; Heterozigoto; Humanos; Camundongos; Cromossomo X/genética

Palavras-chave

X chromosome inactivation; XIC; XIST; deletion

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cromossomos Humanos X / Inativação do Cromossomo X Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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