학술논문
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
Document Type
Article
Author
Ronchi, D.; Meneri, M.; Fortunato, F.; Corti, S.; Comi, G.P.; Garbellini, M.; Magri, F.; Salani, S.; Piga, D.; Menni, F.; Furlan, F.; Bedeschi, M.F.; Dilena, R.; Cecchetti, V.; Picciolli, I.; Polimeni, V.; Mosca, F.; Pezzoli, L.; Bellini, M.; Iascone, M.; Ripolone, M.; Zanotti, S.; Napoli, L.; Ciscato, P.; Sciacco, M.; Mangili, G.
Source
In: European Journal of Human Genetics . (European Journal of Human Genetics, December 2023, 31(12):1414-1420)
Subject
Language
English
ISSN
14765438
10184813
10184813