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Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy

The purpose of the current study was to investigate the 11 bestrophin-1 (BEST1) exons in patients with best vitelliform macular dystrophy (BVMD), and to characterize the associated clinical features. Complete ophthalmic examinations were conducted on two families, and two family members were diagnos...

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Detalles Bibliográficos
Autores principales: LIN, YING, GAO, HONGBIN, LIU, YUHUA, LIANG, XUANWEI, LIU, XIALIN, WANG, ZHONGHAO, ZHANG, WANJUN, CHEN, JIANGNA, LIN, ZHUOLING, HUANG, XINHUA, LIU, YIZHI
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464449/
https://www.ncbi.nlm.nih.gov/pubmed/25936525
http://dx.doi.org/10.3892/mmr.2015.3711