A novel homozygous mutation, c.662_672del, in DGUOK gene causing mitochondrial DNA depletion syndrome of type hepatocerebral – A case report

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Bibliographic Details
Published in:Clinics and research in hepatology and gastroenterology 2024-04, Vol.48 (4), p.102319, Article 102319
Main Authors: Radhakrishna, Kandula, Rajsekhar, Batchu, Ramesh, K. V. Raja, Chitturi, Neelima, Pemmasani, Sandhya Kiran, Acharya, Anuradha
Format: Article
Language:English
Subjects:
DNA, Mitochondrial - genetics
Homozygote
Humans
Infant
Mutation
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ISSN:2210-7401
2210-741X
2210-741X
DOI:10.1016/j.clinre.2024.102319