SLC6A6

Mukhtar Ullah1,2, Atta Ur Rehman3, Madhur Shetty4

  • 1Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.

JAMA ophthalmology
|December 4, 2025
PubMed
概括

在SLC6A6基因的致病变体导致勒伯先天性黄斑症/遗传早期视网膜发育不良通过损害 taurine 运输. 这表明口服 taurine 补充剂可能有利于受影响的个体.