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Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Williams, Katie B; Brigatti, Karlla W; Puffenberger, Erik G; Gonzaga-Jauregui, Claudia; Griffin, Laurie B; Martinez, Erick D; Wenger, Olivia K; Yoder, Mark A; Kandula, Vinay V R; Fox, Michael D; Demczko, Matthew M; Poskitt, Laura; Furuya, Katryn N; Reid, Jeffrey G; Overton, John D; Baras, Aris; Miles, Lili; Radhakrishnan, Kadakkal; Carson, Vincent J; Antonellis, Anthony; Jinks, Robert N; Strauss, Kevin A.
Afiliação
  • Williams KB; Clinic for Special Children, Strasburg, PA, USA.
  • Brigatti KW; Clinic for Special Children, Strasburg, PA, USA.
  • Puffenberger EG; Clinic for Special Children, Strasburg, PA, USA.
  • Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA.
  • Griffin LB; Program in Cellular and Molecular Biology, University of Michigan, Ann Arbor, MI, USA.
  • Martinez ED; Medical Scientist Training Program, University of Michigan, Ann Arbor, MI, USA.
  • Wenger OK; Department of Biology, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA, USA.
  • Yoder MA; New Leaf Center, Mount Eaton, OH, USA.
  • Kandula VVR; Department of Pediatrics, Akron Children's Hospital, Akron, OH, USA.
  • Fox MD; Northeast Ohio Medical University, Rootstown, OH, USA.
  • Demczko MM; Department of Medical Imaging, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Poskitt L; Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Furuya KN; Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.
  • Reid JG; Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Overton JD; Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.
  • Baras A; Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Miles L; Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.
  • Radhakrishnan K; Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.
  • Carson VJ; Division of Pediatric Gastroenterology, Department of Pediatrics, Mayo Clinic, Rochester, MN, USA.
  • Antonellis A; Division of Pediatric Gastroenterology, Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Jinks RN; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA.
  • Strauss KA; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA.
Hum Mol Genet ; 28(4): 525-538, 2019 02 15.
Article em En | MEDLINE | ID: mdl-30304524
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tirosina-tRNA Ligase / Predisposição Genética para Doença / Mutação com Perda de Função / Doenças Genéticas Inatas Tipo de estudo: Etiology_studies Limite: Adult / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos 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: Tirosina-tRNA Ligase / Predisposição Genética para Doença / Mutação com Perda de Função / Doenças Genéticas Inatas Tipo de estudo: Etiology_studies Limite: Adult / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido