학술논문

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

Document Type

Article

Author

Amarasekera, S.S.C.; Lake, N.J.; Amor, D.J.; Simons, C.; Christodoulou, J.; Thorburn, D.R.; Stroud, D.A.; Compton, A.G.; Stark, Z.; Hock, D.H.; Lek, M.; Calvo, S.E.; Mootha, V.K.; Grønborg, S.W.; Wibrand, F.; Østergaard, E.; Krzesinski, E.I.; Fahey, M.C.; Lunke, S.

Source

In: Human Molecular Genetics. (Human Molecular Genetics, 1 August 2023, 32(15):2441-2454)

Subject

Language

English

ISSN

14602083
09646906

Online Access

Full Text (Oxford University Press) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

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Online Access

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