Functional impairment of lens aquaporin in two families with dominantly inherited cataracts.

@article{Francis2000FunctionalIO,
  title={Functional impairment of lens aquaporin in two families with dominantly inherited cataracts.},
  author={Peter Francis and Jean Ju Chung and Masato Yasui and V. Berry and Anthony Moore and Melissa Wyatt and Graeme Wistow and Shomi Shanker Bhattacharya and Peter Agre},
  journal={Human molecular genetics},
  year={2000},
  volume={9 15},
  pages={2329-34}
}
Opacities in the crystalline lens of eye appear with high frequency in the general population. Dominantly inherited cataracts with differing clinical features were found in two families carrying different point mutations in the gene encoding lens water channel protein AQP0 (major intrinsic protein, MIP). Families with E134G have a uni-lamellar cataract which is stable after birth, whereas families with T138R have multi-focal opacities which increase throughout life. To establish… CONTINUE READING

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