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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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| Publié dans: | Int J Ophthalmol |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
International Journal of Ophthalmology Press
2015
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| Sujets: | |
| Accès en ligne: | 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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