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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2010
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2965570/
https://ncbi.nlm.nih.gov/pubmed/21042561
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