Query author contributions in Reactome

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Details on Person de Lonlay, Pascale

Class:Id	Person:3229119
_displayName	de Lonlay, Pascale
_timestamp	2013-03-26 13:47:37
created	[InstanceEdit:3229131] D'Eustachio, P, 2013-03-26
firstname	Pascale
initial	P
modified	[InstanceEdit:3229137] D'Eustachio, P, 2013-03-26
surname	de Lonlay
(author)	[LiteratureReference:3229124] A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic [LiteratureReference:5632908] Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion [LiteratureReference:5683094] Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism [LiteratureReference:6792624] Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase [LiteratureReference:9857614] Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
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No pathways have been reviewed or authored by de Lonlay, Pascale (3229119)