Identification of a novel 91.5 kb-deletion (&#945;&#945;)<sup>FJ</sup> in the &#945;-globin gene cluster using single-molecule real-time (SMRT) sequencing.

Xu, Liangpu; Chen, Meihuan; Zheng, Junhao; Zhang, Siwen; Zhang, Min; Chen, Lingji; He, Qianqian; Guo, Danhua; Lin, Na; Huang, Hailong

Identification of a novel 91.5 kb-deletion (αα)^FJ in the α-globin gene cluster using single-molecule real-time (SMRT) sequencing.

Xu, Liangpu; Chen, Meihuan; Zheng, Junhao; Zhang, Siwen; Zhang, Min; Chen, Lingji; He, Qianqian; Guo, Danhua; Lin, Na; Huang, Hailong.

Afiliação

Xu L; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Chen M; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Zheng J; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Zhang S; Medical Technology and Engineering College, Fujian Medical University, Fuzhou, China.
Zhang M; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Chen L; Medical Technology and Engineering College, Fujian Medical University, Fuzhou, China.
He Q; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Guo D; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Lin N; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Huang H; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China.

J Matern Fetal Neonatal Med ; 36(2): 2254890, 2023 Dec.

Article em En | MEDLINE | ID: mdl-37673790

Assuntos

Talassemia alfa; Feminino; Gravidez; Humanos; Talassemia alfa/diagnóstico; Talassemia alfa/genética; Família Multigênica; Cônjuges; Tecnologia; Irmãos

Palavras-chave

HS-40; SMRT; loss of heterozygosity (LOH); prenatal diagnosis; α-thalassemia

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

Texto completo

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XML

PubMed Links

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