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Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.
Liu, Yichuan; Li, Yun; March, Michael E; Nguyen, Kenny; Kenny, Nguyen; Xu, Kexiang; Wang, Fengxiang; Guo, Yiran; Keating, Brendan; Glessner, Joseph; Li, Jiankang; Ganley, Theodore J; Zhang, Jianguo; Deardorff, Matthew A; Xu, Xun; Hakonarson, Hakon.
Afiliación
  • Liu Y; Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA. liuy5@email.chop.edu.
  • Li Y; Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA. LiY7@email.chop.edu.
  • March ME; Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA. MarchM@email.chop.edu.
  • Kenny N; Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA. NGUYENK6@email.chop.edu.
  • Xu K; Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA. XuK1@email.chop.edu.
  • Wang F; Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA. wangf@email.chop.edu.
  • Guo Y; Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA. GUOY@email.chop.edu.
  • Keating B; Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA. bkeating@mail.med.upenn.edu.
  • Glessner J; Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA. GLESSNER@email.chop.edu.
  • Li J; Beijing Genomics Institute, Shenzhen, China. lijiankang@genomics.cn.
  • Ganley TJ; Center for Sports Medicine and Performance, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. GANLEY@email.chop.edu.
  • Zhang J; Beijing Genomics Institute, Shenzhen, China. zhangjg@genomics.cn.
  • Deardorff MA; Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. DEARDORFF@email.chop.edu.
  • Xu X; Beijing Genomics Institute, Shenzhen, China. xuxun@genomics.cn.
  • Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA. hakonarson@email.chop.edu.
Hum Genomics ; 9: 31, 2015 Nov 11.
Article en En | MEDLINE | ID: mdl-26561035
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Congénitas / Proteínas Nucleares / Variaciones en el Número de Copia de ADN / Articulación de la Rodilla / Proteínas Asociadas a Microtúbulos Tipo de estudio: Risk_factors_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Hum Genomics Asunto de la revista: GENETICA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Congénitas / Proteínas Nucleares / Variaciones en el Número de Copia de ADN / Articulación de la Rodilla / Proteínas Asociadas a Microtúbulos Tipo de estudio: Risk_factors_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Hum Genomics Asunto de la revista: GENETICA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos