A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome

BACKGROUND: Mitochondrial DNA depletion syndrome (MTDPS) is part of a group of mitochondrial diseases characterized by a reduction in mitochondrial DNA copy number. Most MTDPS is caused by mutations in genes that disrupt deoxyribonucleotide metabolism. METHODS: We performed the whole‐exome sequencin...

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Bibliografski detalji
Izdano u:Mol Genet Genomic Med
Glavni autori: Kishita, Yoshihito, Shimura, Masaru, Kohda, Masakazu, Akita, Masumi, Imai‐Okazaki, Atsuko, Yatsuka, Yukiko, Nakajima, Yoko, Ito, Tetsuya, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2020
Teme:
Clinical Reports
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7549589/
https://ncbi.nlm.nih.gov/pubmed/32749073
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1427
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