A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a severe clinically and genetically heterogeneous retinal disorder characterized with failure of vascular development of the peripheral retina. The symptoms of FEVR vary widely among patients in the same family, and even between the two eyes...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Li, Wei, Wang, Ziwei, Sun, Yan, Wang, Zhuoshi, Bai, Jinyue, Xing, Bo, Sun, Xiao, Wang, Lusheng, Li, Jiankang, He, Wei
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6785457/
https://ncbi.nlm.nih.gov/pubmed/31452356
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.948
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