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Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.
Lin, Mao; Liu, Zhenlei; Liu, Gang; Zhao, Sen; Li, Chao; Chen, Weisheng; Coban Akdemir, Zeynep; Lin, Jiachen; Song, Xiaofei; Wang, Shengru; Xu, Qiming; Zhao, Yanxue; Wang, Lianlei; Zhang, Yuanqiang; Yan, Zihui; Liu, Sen; Liu, Jiaqi; Chen, Yixin; Zuo, Yuzhi; Yang, Xu; Sun, Tianshu; Yang, Xin-Zhuang; Niu, Yuchen; Li, Xiaoxin; You, Wesley; Qiu, Bintao; Ding, Chen; Liu, Pengfei; Zhang, Shuyang; Carvalho, Claudia M B; Posey, Jennifer E; Qiu, Guixing; Lupski, James R; Wu, Zhihong; Zhang, Jianguo; Wu, Nan.
Afiliação
  • Lin M; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Liu Z; Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
  • Liu G; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Zhao S; Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China.
  • Li C; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Chen W; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Coban Akdemir Z; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Lin J; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Song X; College of Life and Health Sciences, Northeastern University, ShenYang, China.
  • Wang S; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Xu Q; Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
  • Zhao Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Wang L; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Zhang Y; Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
  • Yan Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Liu S; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Liu J; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Chen Y; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Zuo Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Yang X; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Sun T; Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
  • Yang XZ; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Niu Y; Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
  • Li X; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • You W; Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
  • Qiu B; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Ding C; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Liu P; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Zhang S; Department of Breast Surgical Oncology, National Cancer Center /National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Carvalho CMB; Department of Cardiovascular Surgery, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Posey JE; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Qiu G; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Lupski JR; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Wu Z; Medical Research Center & Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Zhang J; Medical Research Center & Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Wu N; Medical Research Center & Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Mol Genet Genomic Med ; 8(1): e1023, 2020 01.
Article em En | MEDLINE | ID: mdl-31774634
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Progéria / Fibrilina-1 / Lipodistrofia / Síndrome de Marfan / Mutação Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Progéria / Fibrilina-1 / Lipodistrofia / Síndrome de Marfan / Mutação Idioma: En Ano de publicação: 2020 Tipo de documento: Article