Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family.

Li, Jianwei; Wang, Zhiqiang; Han, Yaxin; Jin, Chengfang; Cheng, Dalin; Zhou, Yong-An; Zhen, Junping

Li, Jianwei; Wang, Zhiqiang; Han, Yaxin; Jin, Chengfang; Cheng, Dalin; Zhou, Yong-An; Zhen, Junping.

Afiliación

Li J; The Second Hospital, Shanxi Medical University, Taiyuan, China.
Wang Z; Lvliang People's Hospital, Shanxi Medical University, Lvliang, China.
Han Y; The First Hospital, Shanxi Medical University, Taiyuan, China.
Jin C; Lvliang People's Hospital, Shanxi Medical University, Lvliang, China.
Cheng D; Lvliang People's Hospital, Shanxi Medical University, Lvliang, China.
Zhou YA; The Second Hospital, Shanxi Medical University, Taiyuan, China.
Zhen J; The Second Hospital, Shanxi Medical University, Taiyuan, China.

Mol Genet Genomic Med ; 10(3): e1878, 2022 03.

Article en En | MEDLINE | ID: mdl-35106951

Asunto(s)

Exostosis Múltiple Hereditaria; China; Exostosis Múltiple Hereditaria/genética; Humanos; N-Acetilglucosaminiltransferasas/genética; Linaje; Empalme del ARN

Palabras clave

EXT1; c.1056 + 1G > T; hereditary multiple exostosis; splicing variant; whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Exostosis Múltiple Hereditaria Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Mol Genet Genomic Med Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos

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