| Autor: |
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 |
| Zdroj: |
Retina; April 2015, Vol. 35 Issue: 4 p773-782, 10p |
| Abstrakt: |
The authors report genotypes and phenotypes of five patients from four families with autosomal recessive bestrophinopathy. The authors found novel deleterious BEST1mutations. Carriers of autosomal recessive bestrophinopathy mutations have a normal phenotype. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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