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Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott-Aldrich syndrome.
Ji, Xin; Hou, Xuening; Guo, Xin; Sun, Yifeng; Ma, Futian; Hao, Jihong.
Afiliación
  • Ji X; Department of Clinical Laboratory, The Second Hospital of Hebei Medical University, 215#, Heping West Road, Shijiazhuang, Hebei Province, 050000, China.
  • Hou X; Department of Clinical Laboratory, The Second Hospital of Hebei Medical University, 215#, Heping West Road, Shijiazhuang, Hebei Province, 050000, China.
  • Guo X; Department of Clinical Laboratory, The Second Hospital of Hebei Medical University, 215#, Heping West Road, Shijiazhuang, Hebei Province, 050000, China.
  • Sun Y; Department of Clinical Laboratory, The Second Hospital of Hebei Medical University, 215#, Heping West Road, Shijiazhuang, Hebei Province, 050000, China.
  • Ma F; Department of Hematology and Oncology, Children's Hospital of Hebei Province, 133#, Jianhua South Street, Shijiazhuang, Hebei Province, 050031, China. mftian@163.com.
  • Hao J; Department of Clinical Laboratory, The Second Hospital of Hebei Medical University, 215#, Heping West Road, Shijiazhuang, Hebei Province, 050000, China. haojihong2003@163.com.
Orphanet J Rare Dis ; 17(1): 447, 2022 12 22.
Article en En | MEDLINE | ID: mdl-36550574
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome de Wiskott-Aldrich Tipo de estudio: Diagnostic_studies Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2022 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome de Wiskott-Aldrich Tipo de estudio: Diagnostic_studies Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2022 Tipo del documento: Article