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Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report.
Wu, Ping; Cai, Zhe; Jiang, Wen-Hui; Lu, Gen; Wu, Pei-Qiong; Xie, Zhi-Wei; Peng, Jun-Zheng; Chen, Chen; Qi, Jun-Ye; Xu, Li-Zhen; Shen, Kun-Ling; Zeng, Hua-Song; Yin, Gen-Quan.
Afiliação
  • Wu P; Department of Respirology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510120, Guangdong, China.
  • Cai Z; Department of Respirology, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
  • Jiang WH; Department of Allergy, Immunology and Rheumatology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510120, Guangdong, China.
  • Lu G; Department of Allergy, Immunology and Rheumatology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510120, Guangdong, China.
  • Wu PQ; Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou, 510623, China.
  • Xie ZW; Institute Pasteur of Shanghai, Chinese Academy of Science, Shanghai, 200031, China.
  • Peng JZ; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.
  • Chen C; Department of Respirology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510120, Guangdong, China.
  • Qi JY; Department of Respirology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510120, Guangdong, China.
  • Xu LZ; Department of Respirology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510120, Guangdong, China.
  • Shen KL; Department of Respirology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510120, Guangdong, China.
  • Zeng HS; Department of Respirology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510120, Guangdong, China.
  • Yin GQ; Department of Respirology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510120, Guangdong, China.
BMC Pediatr ; 21(1): 297, 2021 07 01.
Article em En | MEDLINE | ID: mdl-34210262

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteopetrose / ATPases Vacuolares Próton-Translocadoras Tipo de estudo: Prognostic_studies / Screening_studies Limite: Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: BMC Pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteopetrose / ATPases Vacuolares Próton-Translocadoras Tipo de estudo: Prognostic_studies / Screening_studies Limite: Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: BMC Pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China