28757203 |
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Meitinger, T,
Chadefaux-Vekemans, B,
Nitschké, P,
Korenke, GC,
Marquardt, I,
Pontoizeau, C,
Bole-Feysot, C,
Feichtinger, RG,
Strom, TM,
Boutron, A,
Mayr, JA,
Laroche, C,
Hamel, Y,
Kölker, S,
Chrétien, D,
Eisermann, M,
Madrange, M,
Habarou, F,
Rötig, A,
Goudin, N,
Rodenburg, RJ,
Nemazanyy, I,
Grisel, C,
Delahodde, A,
Lebigot, E,
Ottolenghi, C,
Busiah, K,
de Lonlay, P,
Boddaert, N,
Haack, TB,
Barouki, R,
Prokisch, H
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Am J Hum Genet |
2017 |