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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Publicado en:Mol Genet Genomic Med
Autores principales: Li, Wei, Wang, Ziwei, Sun, Yan, Wang, Zhuoshi, Bai, Jinyue, Xing, Bo, Sun, Xiao, Wang, Lusheng, Li, Jiankang, He, Wei
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2019
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Original Articles
Acceso en línea: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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