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Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
Dhanraj, Santhosh; Gunja, Sethu Madhava Rao; Deveau, Adam P; Nissbeck, Mikael; Boonyawat, Boonchai; Coombs, Andrew J; Renieri, Alessandra; Mucciolo, Mafalda; Marozza, Annabella; Buoni, Sabrina; Turner, Lesley; Li, Hongbing; Jarrar, Ameer; Sabanayagam, Mathura; Kirby, Melanie; Shago, Mary; Pinto, Dalila; Berman, Jason N; Scherer, Stephen W; Virtanen, Anders; Dror, Yigal.
Afiliação
  • Dhanraj S; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
  • Gunja SM; Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.
  • Deveau AP; Department of Microbiology and Immunology, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Nissbeck M; Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.
  • Boonyawat B; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Coombs AJ; Department of Pediatrics, IWK Health Centre and Dalhousie University, Halifax, Nova Scotia, Canada.
  • Renieri A; Department of Medical Genetics, University of Siena, Siena, Italy.
  • Mucciolo M; Genetica Medica, Azienda Ospedaliera Universitaria, Senese, Siena, Italy.
  • Marozza A; Genetica Medica, Azienda Ospedaliera Universitaria, Senese, Siena, Italy.
  • Buoni S; Neuropsichiatria Infantile, Azienda Ospedaliera, Universitaria Senese, Siena, Italy.
  • Turner L; Department of Discipline of Genetics, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.
  • Li H; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Jarrar A; Department of Pediatrics, IWK Health Centre and Dalhousie University, Halifax, Nova Scotia, Canada.
  • Sabanayagam M; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Kirby M; Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Shago M; Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.
  • Pinto D; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada Departments of Psychiatry, and Genetics and Genomic Sciences, Seaver Autism Center, The Mindich Child Health & Development Institute, Mount Sinai School of Medicine, New York, New Yo
  • Berman JN; Department of Microbiology and Immunology, Dalhousie University, Halifax, Nova Scotia, Canada Department of Pediatrics, IWK Health Centre and Dalhousie University, Halifax, Nova Scotia, Canada.
  • Scherer SW; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Virtanen A; Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.
  • Dror Y; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
J Med Genet ; 52(11): 738-48, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26342108
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças da Medula Óssea / Deficiências do Desenvolvimento / Deleção de Sequência / Mutação de Sentido Incorreto / Exorribonucleases Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Child / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: J Med Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Canadá País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças da Medula Óssea / Deficiências do Desenvolvimento / Deleção de Sequência / Mutação de Sentido Incorreto / Exorribonucleases Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Child / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: J Med Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Canadá País de publicação: Reino Unido