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De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome.
Kao, Hsiao-Jung; Chiang, Hung-Lun; Chen, Hsiao-Huei; Fan, Pi-Chuan; Tu, Yi-Fang; Chou, Yen-Yin; Hwu, Wuh-Liang; Lin, Chien-Ling; Kwok, Pui-Yan; Lee, Ni-Chung.
Afiliação
  • Kao HJ; Division of Epidemiology and Genetics, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
  • Chiang HL; RNA Biology Group, Institute of Molecular Biology, Academia Sinica, Taipei, Taiwan.
  • Chen HH; Division of Epidemiology and Genetics, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
  • Fan PC; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
  • Tu YF; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Chou YY; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Hwu WL; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
  • Lin CL; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
  • Kwok PY; RNA Biology Group, Institute of Molecular Biology, Academia Sinica, Taipei, Taiwan.
  • Lee NC; Division of Epidemiology and Genetics, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Hum Mutat ; 41(10): 1775-1782, 2020 10.
Article em En | MEDLINE | ID: mdl-32652807
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Inativação do Cromossomo X / Proteínas de Membrana Limite: Female / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Taiwan
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Inativação do Cromossomo X / Proteínas de Membrana Limite: Female / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Taiwan