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Fist Detection of Hb Suqian[ß42(CD1) Phe→Leu, HBB:c.129T > A] in Han Chinese.
Wang, Wenjuan; Ding, Zixuan; Jiang, Airui; Chen, Suning; Han, Huanju.
Afiliación
  • Wang W; Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Collaborative Innovation Center of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.
  • Ding Z; Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Collaborative Innovation Center of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.
  • Jiang A; Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Collaborative Innovation Center of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.
  • Chen S; Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Collaborative Innovation Center of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.
  • Han H; Department of Medical Management Division, The First Affiliated Hospital of Soochow University, Suzhou, China.
Hemoglobin ; 47(1): 19-20, 2023 Jan.
Article en En | MEDLINE | ID: mdl-37092366
We have identified a variant on the ß-globin gene in a Chinese female. Sequencing of the HBB gene revealed a Phe→Leu substitution at codon 42[ß42(CD1) Phe→Leu, HBB:c.129T > A] which has been named Hb Suqian for where the proband was born.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Hemoglobinas Anormales / Globinas beta Tipo de estudio: Diagnostic_studies Límite: Female / Humans Idioma: En Revista: Hemoglobin Año: 2023 Tipo del documento: Article País de afiliación: China
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Hemoglobinas Anormales / Globinas beta Tipo de estudio: Diagnostic_studies Límite: Female / Humans Idioma: En Revista: Hemoglobin Año: 2023 Tipo del documento: Article País de afiliación: China