RRM2B
ribonucleotide reductase regulatory TP53 inducible subunit M2B
Ассоциированные заболевания
Герминативная мутация (причина)5
Kearns-Sayre syndromeORPHA:480
→Autosomal dominant progressive external ophthalmoplegiaORPHA:254892
→Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathyORPHA:255235
→Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyORPHA:329336
→Mitochondrial neurogastrointestinal encephalomyopathyORPHA:298
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