Mitochondrial DNA Depletion Syndrome; MDS
Gene
RRM2B
OMIM Number
251880
Published DNA change
850C>T
Proper Nomenclature
c.850C>T
Published AA change
Q284X
p.Q284Stop
Number of chromosomes
2
Frequency %
Unknown
Source
Bourdon A. et al. Nature Genetics. 2007;39:776-80.