Journal
NATURE GENETICS
Volume 40, Issue 10, Pages 1148-1149Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1008-1148
Keywords
-
Categories
Ask authors/readers for more resources
a new study identifies recessive, loss-of-function mutations in IDH3B, encoding a subunit of the NAD-specific isocitrate dehydrogenase, in individuals with retinitis pigmentosa. The lack of any obvious clinical signs in other tissues in these individuals forces a reassessment of the physiological role of this enzyme outside of the retina.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available