A novel AIRE mutation leads to autoimmune polyendocrine syndrome type-1.

Qian, Guofeng; Yan, Xiaoyi; Xuan, Junli; Zheng, Danfeng; He, Zhiwen; Shen, Jianguo

Qian, Guofeng; Yan, Xiaoyi; Xuan, Junli; Zheng, Danfeng; He, Zhiwen; Shen, Jianguo.

Afiliación

Qian G; Department of Endocrinology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.
Yan X; Department of Cell Biology, College of Medicine, Zhejiang University, Hangzhou, China.
Xuan J; Imaging Facility of Core Facilities, College of Medicine, Zhejiang University, Hangzhou, China.
Zheng D; Department of Laboratory Medicine, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.
He Z; Department of Colorectal and Anal Surgery, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.
Shen J; Department of Endocrinology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.

Front Cell Dev Biol ; 10: 948350, 2022.

Article en En | MEDLINE | ID: mdl-36072346

Palabras clave

autoimmune polyendocrine syndrome type-1 (APS-1); autoimmune regulator (AIRE); exon; homozygous mutation; pedigree

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Cell Dev Biol Año: 2022 Tipo del documento: Article País de afiliación: China

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google