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Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia.
Wu, Weiqing; Liu, Yang; Zhou, Qinghua; Wang, Qin; Luo, Fuwei; Xu, Zhiyong; Geng, Qian; Li, Peining; Zhang, Hui Z; Xie, Jiansheng.
Affiliation
  • Wu W; Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
  • Liu Y; Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China.
  • Zhou Q; Department of Genetics, Yale School of Medicine, New Haven, CT, USA; First Affiliated Hospital, Biomedical Translational Research Institute, Jinan University, Guangzhou, Guangdong, China.
  • Wang Q; Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China.
  • Luo F; Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China.
  • Xu Z; Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China.
  • Geng Q; Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China.
  • Li P; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
  • Zhang HZ; Department of Genetics, Yale School of Medicine, New Haven, CT, USA. Electronic address: hui.zhang@yale.edu.
  • Xie J; Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China. Electronic address: jianshengxie2000@aliyun.com.
Eur J Med Genet ; 60(7): 369-373, 2017 Jul.
Article in En | MEDLINE | ID: mdl-28419882

Full text: 1 Collection: 01-internacional Health context: 2_ODS3 / 6_ODS3_enfermedades_notrasmisibles Database: MEDLINE Main subject: Nuclear Proteins / Carrier Proteins / Fanconi Anemia Complementation Group L Protein / Fanconi Anemia Type of study: Diagnostic_studies Limits: Adult / Child, preschool / Female / Humans Language: En Journal: Eur J Med Genet Year: 2017 Document type: Article

Full text: 1 Collection: 01-internacional Health context: 2_ODS3 / 6_ODS3_enfermedades_notrasmisibles Database: MEDLINE Main subject: Nuclear Proteins / Carrier Proteins / Fanconi Anemia Complementation Group L Protein / Fanconi Anemia Type of study: Diagnostic_studies Limits: Adult / Child, preschool / Female / Humans Language: En Journal: Eur J Med Genet Year: 2017 Document type: Article