A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy
2014; Springer Science+Business Media; Volume: 15; Issue: 3 Linguagem: Inglês
10.1007/s10048-014-0412-2
ISSN1364-6753
AutoresAlireza Kashani, Isabelle Thiffault, Marie-Emmanuelle Dilenge, Christine Saint‐Martin, Kether Guerrero, Luan T. Tran, Eric A. Shoubridge, Marjo S. van der Knaap, Nancy Braverman, Geneviève Bernard,
Tópico(s)RNA regulation and disease
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