Mitochondrial DNA Depletion Syndrome; MDS

 

 

 

Gene

RRM2B

OMIM Number

251880

Published DNA change

850C>T

Proper Nomenclature

c.850C>T

Published AA change

Q284X

Proper Nomenclature

p.Q284Stop

Number of chromosomes

2

Frequency %

Unknown

Source

Bourdon A. et al. Nature Genetics. 2007;39:776-80.