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A novel 15.8 kb deletion α-thalassemia confirmed by long-read single-molecule real-time sequencing: Hematological phenotypes and molecular characterization.
Zhong, Zeyan; Zhong, Guoxing; Guan, Zhiyang; Chen, Dina; Wu, Zhiyong; Yang, Kunxiang; Chen, Dan; Liu, Yinyin; Xu, Ruofan; Chen, Jianhong.
Afiliación
  • Zhong Z; Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, China.
  • Zhong G; Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, China.
  • Guan Z; Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, China.
  • Chen D; Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, China.
  • Wu Z; Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, China.
  • Yang K; Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, China.
  • Chen D; Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, China.
  • Liu Y; Berry Genomics Corporation, Beijing, China.
  • Xu R; Berry Genomics Corporation, Beijing, China.
  • Chen J; Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, China. Electronic address: cjhong2004@hotmail.com.
Clin Biochem ; 108: 46-49, 2022 Oct.
Article en En | MEDLINE | ID: mdl-35792184

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Talasemia beta / Talasemia alfa Tipo de estudio: Diagnostic_studies / Guideline Límite: Female / Humans / Pregnancy Idioma: En Revista: Clin Biochem Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Talasemia beta / Talasemia alfa Tipo de estudio: Diagnostic_studies / Guideline Límite: Female / Humans / Pregnancy Idioma: En Revista: Clin Biochem Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos