A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy
Crossref DOI link: https://doi.org/10.1007/8904_2018_115
Published Online: 2018-06-20
Published Print: 2018
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Iuso, Arcangela
Alhaddad, Bader
Weigel, Corina
Kotzaeridou, Urania
Mastantuono, Elisa
Schwarzmayr, Thomas
Graf, Elisabeth
Terrile, Caterina
Prokisch, Holger
Strom, Tim M.
Hoffmann, Georg F.
Meitinger, Thomas
Haack, Tobias B.
Text and Data Mining valid from 2018-01-01