Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.

@article{Kang2010HumanEN,
  title={Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.},
  author={Nayoung Kang and Ah Hyun Jun and Yangzom D Bhutia and Natarajan Kannan and Jashvant D. Unadkat and Rajgopal Govindarajan},
  journal={The Journal of biological chemistry},
  year={2010},
  volume={285 36},
  pages={28343-52}
}
Accumulating evidence reveals that sole mutations in hENT3 cause a spectrum of human genetic disorders. Among these include H syndrome, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial… CONTINUE READING
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