Heterozygous variants c.781G>A and c.1066dup of <i>serine protease 56</i> cause familial nanophthalmos by impairing serine-type endopeptidase activity.

Wu, Wei; Xu, Jingjie; Yin, Houfa; Fu, Chenxi; Yao, Ke; Chen, Xiangjun

Heterozygous variants c.781G>A and c.1066dup of serine protease 56 cause familial nanophthalmos by impairing serine-type endopeptidase activity.

Wu, Wei; Xu, Jingjie; Yin, Houfa; Fu, Chenxi; Yao, Ke; Chen, Xiangjun.

Afiliación

Wu W; Eye Center of the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Xu J; Eye Center of the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Yin H; Eye Center of the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Fu C; Eye Center of the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Yao K; Eye Center of the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China chenxiangjun@zju.edu.cn xlren@zju.edu.cn.
Chen X; Eye Center of the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China chenxiangjun@zju.edu.cn xlren@zju.edu.cn.

Br J Ophthalmol ; 107(11): 1750-1756, 2023 Nov.

Article en En | MEDLINE | ID: mdl-35383051

Palabras clave

Experimental laboratory; Eye (Globe); Genetics

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: Br J Ophthalmol Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google