To report the ocular phenotype in patients with autosomal recessive bestrophinopathy and carriers, and to describe novel BEST1 mutations.
New best1 mutations in autosomal recessive bestrophinopathy / 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. - In: RETINA. - ISSN 0275-004X. - 35:4(2015), pp. 773-82-782. [10.1097/IAE.0000000000000387]
New best1 mutations in autosomal recessive bestrophinopathy
GIOVANNINI, ALFONSO;
2015-01-01
Abstract
To report the ocular phenotype in patients with autosomal recessive bestrophinopathy and carriers, and to describe novel BEST1 mutations.File in questo prodotto:
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