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Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.
Shaheen, Ranad; Anazi, Shams; Ben-Omran, Tawfeg; Seidahmed, Mohammed Zain; Caddle, L Brianna; Palmer, Kristina; Ali, Rehab; Alshidi, Tarfa; Hagos, Samya; Goodwin, Leslie; Hashem, Mais; Wakil, Salma M; Abouelhoda, Mohamed; Colak, Dilek; Murray, Stephen A; Alkuraya, Fowzan S.
Afiliação
  • Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Anazi S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Ben-Omran T; Department of Genetics, Hamad Medical Corporation, Doha, Qatar.
  • Seidahmed MZ; Department of Pediatrics, Security Forces Hospital, Riyadh 12625, Saudi Arabia.
  • Caddle LB; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
  • Palmer K; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
  • Ali R; Department of Genetics, Hamad Medical Corporation, Doha, Qatar.
  • Alshidi T; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Hagos S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Goodwin L; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
  • Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Wakil SM; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Abouelhoda M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Colak D; Department of Biostatistics, Epidemiology, and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Murray SA; The Jackson Laboratory, Bar Harbor, ME 04609, USA. Electronic address: steve.murray@jax.org.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address: falkuraya@kfshrc.edu.sa.
Am J Hum Genet ; 98(4): 643-52, 2016 Apr 07.
Article em En | MEDLINE | ID: mdl-27018474
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfoproteínas / Anormalidades Múltiplas / Degradação do RNAm Mediada por Códon sem Sentido / Mutação Tipo de estudo: Observational_studies Limite: Adult / Animals / Child / Child, preschool / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Arábia Saudita
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfoproteínas / Anormalidades Múltiplas / Degradação do RNAm Mediada por Códon sem Sentido / Mutação Tipo de estudo: Observational_studies Limite: Adult / Animals / Child / Child, preschool / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Arábia Saudita