Llwytho...

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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Int J Ophthalmol
Prif Awduron: Tian, Rong, Wang, Shu-Ran, Wang, Jing, Chen, You-Xin
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: International Journal of Ophthalmology Press 2015
Pynciau:
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!