Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

Author: Habarou, Florence; Hamel, Yamina; Haack, Tobias B.; Feichtinger, Rene G.; Lebigot, Elise; Marquardt, Iris; Busiah, Kanetee; Laroche, Cecile; Madrange, Marine; Grisel, Coraline; Pontoizeau, Clement; Eisermann, Monika; Boutron, Audrey; Chretien, Dominique; Chadefaux-Vekemans, Bernadette; Barouki, Robert; Bole-Feysot, Christine; Nitschke, Patrick; Goudin, Nicolas; Boddaert, Nathalie; Nemazanyy, Ivan; Delahodde, Agnes; Kolker, Stefan; Rodenburg, Richard J.; Korenke, G. Christoph; Meitinger, Thomas; Strom, Tim M.; Prokisch, Holger; Rotig, Agnes; Ottolenghi, Chris; Mayr, Johannes A.; de Lonlay, Pascale
Tübinger Autor(en):
Haack, Tobias
Published in: American Journal of Human Genetics (2017), Bd. 101, H. 2, S. 283-290
Verlagsangabe: Cell Press
Language: English
Full text: http://dx.doi.org/10.1016/j.ajhg.2017.07.001
ISSN: 1537-6605
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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