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Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
Ajeawung, Norbert F; Nguyen, Thi Tuyet Mai; Lu, Linchao; Kucharski, Thomas J; Rousseau, Justine; Molidperee, Sirinart; Atienza, Joshua; Gamache, Isabel; Jin, Weidong; Plon, Sharon E; Lee, Brendan H; Teodoro, Jose G; Wang, Lisa L; Campeau, Philippe M.
Afiliação
  • Ajeawung NF; Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada.
  • Nguyen TTM; Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada.
  • Lu L; Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA.
  • Kucharski TJ; Department of Biochemistry, McGill University, Montreal, QC H3A 1A3, Canada.
  • Rousseau J; Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada.
  • Molidperee S; Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada.
  • Atienza J; Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada.
  • Gamache I; Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada.
  • Jin W; Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA.
  • Plon SE; Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Teodoro JG; Department of Biochemistry, McGill University, Montreal, QC H3A 1A3, Canada.
  • Wang LL; Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: llwang@bcm.edu.
  • Campeau PM; Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address: p.campeau@umontreal.ca.
Am J Hum Genet ; 105(3): 625-630, 2019 09 05.
Article em En | MEDLINE | ID: mdl-31303264
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Rothmund-Thomson / Ciclossomo-Complexo Promotor de Anáfase / Subunidade Apc1 do Ciclossomo-Complexo Promotor de Anáfase / Mutação Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Rothmund-Thomson / Ciclossomo-Complexo Promotor de Anáfase / Subunidade Apc1 do Ciclossomo-Complexo Promotor de Anáfase / Mutação Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article