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Autosomal recessive bestrophinopathy (ARB) results from a total absence of functional bestrophin-1 protein owing to two BEST1 mutations, one on each of the chromosomes.

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Best Vitelliform Macular Dystrophy

  • 章节

  • 发表日期：

    2025年

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  • Justin Cheong,
  • Stephen H. Tsang,
  • Tarun Sharma,
  • Vlad Diaconita

摘要

Autosomal recessive bestrophinopathy (ARB) results from a total absence of functional bestrophin-1 protein owing to two BEST1 mutations, one on each of the chromosomes.