期刊
NATURE GENETICS
卷 40, 期 10, 页码 1148-1149出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1008-1148
关键词
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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.
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