Metodiev, Metodi D

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. [electronic resource] - American journal of human genetics May 2016 - 993-1000 p. digital

Publication Type: Case Reports; Journal Article

1537-6605

10.1016/j.ajhg.2016.03.010 doi


Amino Acid Sequence
Electron Transport--genetics
Female
Genes, Recessive--genetics
Humans
Infant, Newborn
Male
Methyltransferases--genetics
Mitochondria--metabolism
Mitochondrial Diseases--etiology
Mutation--genetics
Pedigree
Protein Biosynthesis--physiology
RNA--genetics
RNA Processing, Post-Transcriptional--genetics
RNA, Mitochondrial
RNA, Transfer--genetics
Ribonuclease P--genetics
Sequence Homology, Amino Acid