Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase
人类脂酰转移酶基因 LIPT1 的突变会导致莱氏病,并伴有丙酮酸和α-酮戊二酸脱氢酶的继发性缺乏。
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/1750-1172-8-192
Soreze, Yohan; Boutron, Audrey; Habarou, Florence; Barnerias, Christine; Nonnenmacher, Luc; Delpech, Hélène; Mamoune, Asmaa; Chrétien, Dominique; Hubert, Laurence; Bole-Feysot, Christine; Nitschke, Patrick; Correia, Isabelle; Sardet, Claude; Boddaert, Nathalie; Hamel, Yamina; Delahodde, Agnès; Ottolenghi, Chris; de Lonlay, Pascale