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A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
Pagnamenta, Alistair T; Murakami, Yoshiko; Anzilotti, Consuelo; Titheradge, Hannah; Oates, Adam J; Morton, Jenny; Kinoshita, Taroh; Kini, Usha; Taylor, Jenny C.
Afiliação
  • Pagnamenta AT; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, Oxfordshire, UK.
  • Murakami Y; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan.
  • Anzilotti C; World Premier International Immunology Frontier Research Center, Osaka University, Osaka, Japan.
  • Titheradge H; Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.
  • Oates AJ; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham Women's Hospital, Mindelsohn Way, Edgbaston, Birmingham, UK.
  • Morton J; Radiology Department, Birmingham Children's Hospital, Birmingham, UK.
  • Kinoshita T; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
  • Kini U; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan.
  • Taylor JC; World Premier International Immunology Frontier Research Center, Osaka University, Osaka, Japan.
Hum Mutat ; 39(6): 822-826, 2018 06.
Article em En | MEDLINE | ID: mdl-29573052
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Epilepsia / Proteínas de Membrana / Microcefalia Tipo de estudo: Risk_factors_studies Limite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Epilepsia / Proteínas de Membrana / Microcefalia Tipo de estudo: Risk_factors_studies Limite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido