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Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Yohan Soreze, Audrey Boutron, Florence Habarou, Christine Barnerias, Luc Nonnenmacher, Hélène Delpech, Asmaa Mamoune, Dominique Chrétien, Laurence Hubert, Christine Bole-Feysot, Patrick Nitschke, Isabelle Correia, Claude Sardet, Nathalie Boddaert, Yamina Hamel, Agnès Delahodde, Chris Ottolenghi, Pascale de Lonlay

Orphanet J Rare Dis. 2013; 8: 192. Published online 2013 Dec 17. doi: 10.1186/1750-1172-8-192

PMCID:: PMC3905285

Abstract Article PDF–1.1M

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RecName: Full=Retinol-binding protein 1; AltName: Full=Cellular retinol-binding ...
RecName: Full=Retinol-binding protein 1; AltName: Full=Cellular retinol-binding protein; Short=CRBP; AltName: Full=Cellular retinol-binding protein I; Short=CRBP-I; Short=mCRBPI
gi|266903|sp|Q00915.2|RET1_MOUSE

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