Novel Promoter Mutation (<i>HBB</i>:C.-139_-138del) Associated with ß-Thalassemia Trait Detected by Next-Generation Sequencing in Southern China.

Pan, Lei; Tian, Peirun; Chen, Shiping; Zhang, Rui

Novel Promoter Mutation (HBB:C.-139_-138del) Associated with ß-Thalassemia Trait Detected by Next-Generation Sequencing in Southern China.

Pan, Lei; Tian, Peirun; Chen, Shiping; Zhang, Rui.

Afiliação

Pan L; Department of Medical Genetics and Prenatal Diagnosis, Baoan Women's and Children's Hospital, Jinan University, Shenzhen, P.R. China.
Tian P; BGI Genomics, BGI-Shenzhen, Shenzhen, P.R. China.
Chen S; BGI Genomics, BGI-Shenzhen, Shenzhen, P.R. China.
Zhang R; Department of Medical Genetics and Prenatal Diagnosis, Baoan Women's and Children's Hospital, Jinan University, Shenzhen, P.R. China.

Hemoglobin ; 47(1): 21-24, 2023 Jan.

Article em En | MEDLINE | ID: mdl-36866928

Assuntos

Talassemia beta; Masculino; Humanos; Adulto; Talassemia beta/diagnóstico; Talassemia beta/genética; Sequenciamento de Nucleotídeos em Larga Escala; China; Mutação; Globinas beta/genética

Palavras-chave

next generation sequencing; promoter mutation; ß-globin gene

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Talassemia beta Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Talassemia beta Idioma: En Ano de publicação: 2023 Tipo de documento: Article