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Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients

AIM: To analyze the CYP4V2 mutations in five unrelated Chinese patients with Bietti crystalline corneoretinal dystrophy (BCD) and to provide clinical features of these patients. BCD is a rare monogenic autosomal recessively inherited disorder characterized by the presence of crystals in the retina a...

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Detalhes bibliográficos
Publicado no:Int J Ophthalmol
Main Authors: Tian, Rong, Wang, Shu-Ran, Wang, Jing, Chen, You-Xin
Formato: Artigo
Idioma:Inglês
Publicado em: International Journal of Ophthalmology Press 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4458647/
https://ncbi.nlm.nih.gov/pubmed/26085992
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3980/j.issn.2222-3959.2015.03.06
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