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Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.
Cardinale, Christopher J; Li, Dong; Tian, Lifeng; Connolly, John J; March, Michael E; Hou, Cuiping; Wang, Fengxiang; Snyder, James; Kim, Cecilia E; Chiavacci, Rosetta M; Sleiman, Patrick M; Burnham, Jon M; Hakonarson, Hakon.
Afiliação
  • Cardinale CJ; Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd Ste 1216, Philadelphia, PA, 19104, USA.
  • Li D; Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd Ste 1216, Philadelphia, PA, 19104, USA.
  • Tian L; Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd Ste 1216, Philadelphia, PA, 19104, USA.
  • Connolly JJ; Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd Ste 1216, Philadelphia, PA, 19104, USA.
  • March ME; Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd Ste 1216, Philadelphia, PA, 19104, USA.
  • Hou C; Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd Ste 1216, Philadelphia, PA, 19104, USA.
  • Wang F; Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd Ste 1216, Philadelphia, PA, 19104, USA.
  • Snyder J; Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd Ste 1216, Philadelphia, PA, 19104, USA.
  • Kim CE; Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd Ste 1216, Philadelphia, PA, 19104, USA.
  • Chiavacci RM; Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd Ste 1216, Philadelphia, PA, 19104, USA.
  • Sleiman PM; Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd Ste 1216, Philadelphia, PA, 19104, USA.
  • Burnham JM; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
  • Hakonarson H; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
BMC Musculoskelet Disord ; 17(1): 462, 2016 11 09.
Article em En | MEDLINE | ID: mdl-27829420
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Escleroderma Sistêmico / Mutação de Sentido Incorreto / Exoma / Receptor Notch4 / Genes Dominantes Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Male Idioma: En Revista: BMC Musculoskelet Disord Assunto da revista: FISIOLOGIA / ORTOPEDIA Ano de publicação: 2016 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: Escleroderma Sistêmico / Mutação de Sentido Incorreto / Exoma / Receptor Notch4 / Genes Dominantes Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Male Idioma: En Revista: BMC Musculoskelet Disord Assunto da revista: FISIOLOGIA / ORTOPEDIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido