KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM)

PURPOSE: Two Chinese families (XT and YT) with congenital fibrosis of the extraocular muscles (CFEOM) were identified. The purpose of this study was to determine if previously described Homo sapiens kinesin family member 21A (KIF21A) mutations were responsible for CFEOM in these two Chinese pedigree...

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Detalles Bibliográficos
Autores principales: Yang, Xian, Yamada, Koki, Katz, Bradley, Guan, Hongzai, Wang, Lifei, Andrews, Caroline, Zhao, Guiqiu, Engle, Elizabeth C., Chen, Haoyu, Tong, Zongzhong, Kong, Jie, Hu, Cong, Kong, Qinglan, Fan, Guiyun, Wang, Ze, Ning, Meizhen, Zhang, Shaoyan, Xu, Jinling, Zhang, Kang
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965570/
https://www.ncbi.nlm.nih.gov/pubmed/21042561

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