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NEW BEST1 MUTATIONS IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY
PURPOSE: To report the ocular phenotype in patients with autosomal recessive bestrophinopathy and carriers, and to describe novel BEST1 mutations. METHODS: Patients with clinically suspected and subsequently genetically proven autosomal recessive bestrophinopathy underwent full ophthalmic examinatio...
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| Publicado no: | Retina |
|---|---|
| Main Authors: | , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4425987/ https://ncbi.nlm.nih.gov/pubmed/25545482 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/IAE.0000000000000387 |
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