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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Retina
Prif Awduron: FUNG, ADRIAN T., YZER, SUZANNE, GOLDBERG, NAOMI, WANG, HAO, NISSEN, MICHAEL, GIOVANNINI, ALFONSO, MERRIAM, JOANNA E., BUKANOVA, ELENA N., CAI, CAROLYN, YANNUZZI, LAWRENCE A., TSANG, STEPHEN H., ALLIKMETS, RANDO
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2015
Pynciau:
Article
Mynediad Ar-lein: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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