A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases
2019; Springer Science+Business Media; Volume: 70; Issue: 1 Linguagem: Inglês
10.1007/s12031-019-01410-z
ISSN1559-1166
AutoresGeorgia Xiromerisiou, Katerina Dadouli, Chrysoula Marogianni, Antonios Provatas, Panagiotis Ntellas, Dimitrios Rikos, Pantelis Stathis, Despina Georgouli, Gedeon Loules, Μαρία Ζαμανάκου, Georgios M. Hadjigeorgiou,
Tópico(s)Mitochondrial Function and Pathology
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