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Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.
DiStasio, Andrew; Driver, Ashley; Sund, Kristen; Donlin, Milene; Muraleedharan, Ranjith M; Pooya, Shabnam; Kline-Fath, Beth; Kaufman, Kenneth M; Prows, Cynthia A; Schorry, Elizabeth; Dasgupta, Biplab; Stottmann, Rolf W.
Afiliação
  • DiStasio A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Driver A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Sund K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Donlin M; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Muraleedharan RM; Division of Hematology and Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Pooya S; Division of Hematology and Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Kline-Fath B; Department of Radiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Kaufman KM; Division of Rheumatology and Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Prows CA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Schorry E; Division of Patient Services, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Dasgupta B; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Stottmann RW; Division of Hematology and Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Hum Mol Genet ; 26(24): 4836-4848, 2017 12 15.
Article em En | MEDLINE | ID: mdl-29036432
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteína Coatomer / Microcefalia Tipo de estudo: Prognostic_studies Limite: Animals / Child / Female / Humans / Male 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: Proteína Coatomer / Microcefalia Tipo de estudo: Prognostic_studies Limite: Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article