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Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
Said, Edith; Chong, Jessica X; Hempel, Maja; Denecke, Jonas; Soler, Paul; Strom, Tim; Nickerson, Deborah A; Kubisch, Christian; Bamshad, Michael J; Lessel, Davor.
Afiliação
  • Said E; Department of Anatomy and Cell Biology, University of Malta, Msida, Malta.
  • Chong JX; Section of Medical Genetics, Mater dei Hospital, Msida, Malta.
  • Hempel M; Department of Pediatrics, University of Washington, Seattle, Washington.
  • Denecke J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Soler P; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
  • Strom T; Department of Paediatics, Mater dei Hospital, Msida, Malta.
  • Nickerson DA; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Kubisch C; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Bamshad MJ; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
Am J Med Genet A ; 173(11): 3098-3103, 2017 Nov.
Article em En | MEDLINE | ID: mdl-28884921
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Artrogripose / Doença dos Neurônios Motores / Proteínas de Transporte Nucleocitoplasmático / Transtornos Motores Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Artrogripose / Doença dos Neurônios Motores / Proteínas de Transporte Nucleocitoplasmático / Transtornos Motores Idioma: En Ano de publicação: 2017 Tipo de documento: Article