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Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
Bosch, Daniëlle G M; Boonstra, F Nienke; Kinoshita, Taroh; Jhangiani, Shalini; de Ligt, Joep; Cremers, Frans P M; Lupski, James R; Murakami, Yoshiko; de Vries, Bert B A.
Afiliação
  • Bosch DG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Boonstra FN; Bartiméus, Institute for the Visually Impaired, Zeist, The Netherlands.
  • Kinoshita T; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Jhangiani S; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • de Ligt J; Bartiméus, Institute for the Visually Impaired, Zeist, The Netherlands.
  • Cremers FP; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Lupski JR; Research Institute for Microbial Diseases and WPI Immunology Frontier Research Center, Osaka University, Suita, Osaka, Japan.
  • Murakami Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • de Vries BB; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Eur J Hum Genet ; 23(12): 1689-93, 2015 Dec.
Article em En | MEDLINE | ID: mdl-25804403
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos da Visão / Monoéster Fosfórico Hidrolases / Proteínas de Membrana / Deficiência Intelectual / Mutação Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos da Visão / Monoéster Fosfórico Hidrolases / Proteínas de Membrana / Deficiência Intelectual / Mutação Idioma: En Ano de publicação: 2015 Tipo de documento: Article