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Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
Cohen, Ana S A; Yap, Damian B; Lewis, M E Suzanne; Chijiwa, Chieko; Ramos-Arroyo, Maria A; Tkachenko, Natália; Milano, Valentina; Fradin, Mélanie; McKinnon, Margaret L; Townsend, Katelin N; Xu, Jieqing; Van Allen, M I; Ross, Colin J D; Dobyns, William B; Weaver, David D; Gibson, William T.
Afiliación
  • Cohen AS; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, V6T 1Z3, Canada.
  • Yap DB; Child and Family Research Institute, Vancouver, British Columbia, V5Z 4H4, Canada.
  • Lewis ME; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, V6T 2B5, Canada.
  • Chijiwa C; Department of Molecular Oncology, British Columbia Cancer Research Centre, Vancouver, British Columbia, V5Z 1L3, Canada.
  • Ramos-Arroyo MA; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, V6T 1Z3, Canada.
  • Tkachenko N; Child and Family Research Institute, Vancouver, British Columbia, V5Z 4H4, Canada.
  • Milano V; Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, V6H 3N1, Canada.
  • Fradin M; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, V6T 1Z3, Canada.
  • McKinnon ML; Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, V6H 3N1, Canada.
  • Townsend KN; Department of Medical Genetics, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, Pamplona, 31008, Spain.
  • Xu J; Medical Genetics Service, Medical Genetics Center Dr. Jacinto Magalhães, Porto Hospital Center, EPE, Porto, 4099-001, Portugal.
  • Van Allen MI; Instituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico Universitario Agostino Gemelli, Roma, 00168, Italy.
  • Ross CJ; Service de Génétique Clinique, Centre de Référence Anomalies du Développement, CHU Rennes, Rennes, 35203, France.
  • Dobyns WB; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, V6T 1Z3, Canada.
  • Weaver DD; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, V6T 1Z3, Canada.
  • Gibson WT; Child and Family Research Institute, Vancouver, British Columbia, V5Z 4H4, Canada.
Hum Mutat ; 37(3): 301-7, 2016 Mar.
Article en En | MEDLINE | ID: mdl-26694085
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anomalías Múltiples / Deformidades Congénitas de la Mano / N-Metiltransferasa de Histona-Lisina / Anomalías Craneofaciales / Hipotiroidismo Congénito / Proteína Potenciadora del Homólogo Zeste 2 Tipo de estudio: Risk_factors_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Canadá
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anomalías Múltiples / Deformidades Congénitas de la Mano / N-Metiltransferasa de Histona-Lisina / Anomalías Craneofaciales / Hipotiroidismo Congénito / Proteína Potenciadora del Homólogo Zeste 2 Tipo de estudio: Risk_factors_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Canadá