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Hb Guangxi [ß65(E9)Lys→Glu (AAG>GAG); HBB: c.196A>G]: A Novel ß-Globin Variant.
Xu, Miao; Chen, Wei-Dong; Wang, Ya-Jun; Zhou, Yu; Li, Jie; Xu, An-Ping; Ji, Ling.
Afiliación
  • Xu M; Department of Laboratory Medicine, Weifang People's Hospital, Weifang, Shandong, People's Republic of China.
  • Chen WD; Department of Laboratory Medicine, Peking University Shenzhen Hospital, Shenzhen, People's Republic of China Guangdong.
  • Wang YJ; Public Health Laboratory Center, Kowloon, Hong Kong.
  • Zhou Y; Department of Laboratory Medicine, Peking University Shenzhen Hospital, Shenzhen, People's Republic of China Guangdong.
  • Li J; Department of Laboratory Medicine, Peking University Shenzhen Hospital, Shenzhen, People's Republic of China Guangdong.
  • Xu AP; Department of Laboratory Medicine, Peking University Shenzhen Hospital, Shenzhen, People's Republic of China Guangdong.
  • Ji L; Department of Laboratory Medicine, Peking University Shenzhen Hospital, Shenzhen, People's Republic of China Guangdong.
Hemoglobin ; 45(6): 349-350, 2021 Nov.
Article en En | MEDLINE | ID: mdl-31437061
We report a novel variant found in a female from Guilin municipality in the Guangxi Zhuang Autonomous Region of the People's Republic of China. This variant can be readily detected by both cation exchange high performance liquid chromatography (HPLC) and capillary electrophoresis (CE). Sanger sequencing revealed a novel mutation on the ß-globin gene [ß65(E9)Lys→Glu (AAG>GAG); HBB: c.196A>G]. We named this novel hemoglobin (Hb) variant Hb Guangxi for the place of origin of the proband.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Hemoglobinas Anormales / Globinas beta Límite: Female / Humans País/Región como asunto: Asia Idioma: En Revista: Hemoglobin Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Hemoglobinas Anormales / Globinas beta Límite: Female / Humans País/Región como asunto: Asia Idioma: En Revista: Hemoglobin Año: 2021 Tipo del documento: Article