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Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing.
Hou, Yu; Shao, Linlin; Zhou, Hai; Liu, Yanfeng; Fisk, Dianna G; Spiteri, Elizabeth; Zehnder, James L; Peng, Jun; Zhang, Bing M; Hou, Ming.
Afiliação
  • Hou Y; Department of Hematology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.
  • Shao L; Shandong Provincial Key Laboratory of Immunohematology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.
  • Zhou H; Department of Hematology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.
  • Liu Y; Department of Hematology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.
  • Fisk DG; Shandong Provincial Key Laboratory of Immunohematology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.
  • Spiteri E; Clinical Genomics Program, Stanford Health Care, Palo Alto, United States.
  • Zehnder JL; Clinical Genomics Program, Stanford Health Care, Palo Alto, United States.
  • Peng J; Department of Pathology, Stanford University School of Medicine, Palo Alto, United States.
  • Zhang BM; Department of Pathology, Stanford University School of Medicine, Palo Alto, United States.
  • Hou M; Department of Hematology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.
Platelets ; 32(8): 1108-1112, 2021 Nov 17.
Article em En | MEDLINE | ID: mdl-33400601
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Trombocitopenia / Tubulina (Proteína) Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Trombocitopenia / Tubulina (Proteína) Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article