A novel splicing mutation in F8 causes various aberrant transcripts in a hemophilia A patient and identifies a new transcript from healthy individuals.

Yi, Sheng; Zuo, Yangjin; Yu, Qiuxia; Yang, Qi; Li, Mengting; Lan, Yueyun; Huang, Limei; Zhang, Qinle; Qin, Zailong; Luo, Jingsi

Yi, Sheng; Zuo, Yangjin; Yu, Qiuxia; Yang, Qi; Li, Mengting; Lan, Yueyun; Huang, Limei; Zhang, Qinle; Qin, Zailong; Luo, Jingsi.

Afiliación

Yi S; Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning.
Zuo Y; Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning.
Yu Q; Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, People's Republic of China.
Yang Q; Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning.
Li M; Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning.
Lan Y; Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning.
Huang L; Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning.
Zhang Q; Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning.
Qin Z; Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning.
Luo J; Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning.

Blood Coagul Fibrinolysis ; 31(8): 506-510, 2020 Dec.

Article en En | MEDLINE | ID: mdl-32852327

Asunto(s)

Factor VIII/genética; Hemofilia A/genética; Coagulación Sanguínea; Niño; Femenino; Hemofilia A/sangre; Humanos; Intrones; Masculino; Mutación; Linaje; Polimorfismo de Nucleótido Simple; Empalme del ARN; ARN Mensajero/genética

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factor VIII / Hemofilia A Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Female / Humans / Male Idioma: En Revista: Blood Coagul Fibrinolysis Asunto de la revista: ANGIOLOGIA / HEMATOLOGIA Año: 2020 Tipo del documento: Article Pais de publicación: Reino Unido

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google