Genetic Analysis and Multimodal Imaging Confirm M.12148t>C Mitochondrial Variant Pathogenicity Leading to Multisystem Dysfunction-Reference-Cited by-同舟云学术

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Genetic Analysis and Multimodal Imaging Confirm M.12148t>C Mitochondrial Variant Pathogenicity Leading to Multisystem Dysfunction

Published:2024 Issue: Volume: Page:
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Author:

Belle Kinsley,Kreymerman Alexander,kk kk,Vadgama Nirmal,dave Rachael,hi h,Caicedo Juan,c c,anderson gary,rrr r rr,Lee Richard T.,Nasir Jamal,Vallejos-Flores Miguel,Wickman Martha,Schaefer Andrew M.,Taylor Robert W.,Mercola Mark,Koeberl Dwight,Wood Edward H.

Publisher

Elsevier BV

Reference30 articles.

1. Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease;E L Blakely;Hum. Mutat,2013

2. Transcription, processing, and decay of mitochondrial RNA in health and disease;A Barchiesi;Int. J. Mol. Sci,2019

3. Interpretation of mitochondrial tRNA variants;L.-J C Wong;Genet. Med,2020

4. Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease;D C Wallace;Cold Spring Harb. Perspect. Biol,2013

5. Tissue-specific mitochondrial heteroplasmy at position 16,093 within the same individual;K Krjut�kov;Curr. Genet,2014

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