Case report: A novel 10.8-kb deletion identified in the ß-globin gene through the long-read sequencing technology in a Chinese family with abnormal hemoglobin testing results.

Shao, Mingkun; Wan, Yaoyao; Cao, Weipeng; Yang, Juan; Cui, Di; Ma, Minhui; Hu, Wanqin

Shao, Mingkun; Wan, Yaoyao; Cao, Weipeng; Yang, Juan; Cui, Di; Ma, Minhui; Hu, Wanqin.

Afiliación

Shao M; Department of OB and GYN, The Second Affiliated Hospital of Kunming Medical University, Yunnan, China.
Wan Y; Department of Cardiovascular Medicine, The Second People's Hospital of Honghe Autonomous Prefecture, Yunnan, China.
Cao W; Jinyu Medical Laboratory Co., Ltd., Yunnan, China.
Yang J; Jinyu Medical Laboratory Co., Ltd., Yunnan, China.
Cui D; Berry Genomics Corporation, Beijing, China.
Ma M; Berry Genomics Corporation, Beijing, China.
Hu W; Department of OB and GYN, The Second Affiliated Hospital of Kunming Medical University, Yunnan, China.

Front Med (Lausanne) ; 10: 1192279, 2023.

Article en En | MEDLINE | ID: mdl-37521358

Palabras clave

gap-polymerase chain reaction; large fragment deletion; long-read sequencing (LRS); multiplex ligation-dependent probe amplification (MLPA); thalassemia; ß-globin gene (HBB)

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Med (Lausanne) Año: 2023 Tipo del documento: Article País de afiliación: China

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google