Query author contributions in Reactome

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Details on Person Endo, F

Class:Id	Person:2285542
_displayName	Endo, F
_timestamp	2012-05-28 12:16:21
created	[InstanceEdit:2285516] Jassal, B, 2012-05-28
firstname	F
initial	F
surname	Endo
(author)	[LiteratureReference:2285513] Clinical and molecular analysis of a Japanese boy with Morquio B disease [LiteratureReference:5660887] Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance [LiteratureReference:9864942] Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease [LiteratureReference:9864963] Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region [LiteratureReference:9864967] Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity [LiteratureReference:9956151] Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency [LiteratureReference:9956158] Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes [LiteratureReference:9956178] Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult [LiteratureReference:9957635] Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency
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No pathways have been reviewed or authored by Endo, F (2285542)