Query author contributions in Reactome

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Details on Person Cox, R P

Class:Id	Person:9864934
_displayName	Cox, R P
_timestamp	2024-03-08 21:18:57
created	[InstanceEdit:9864935] Rothfels, Karen, 2024-03-08
firstname	R P
initial	RP
surname	Cox
(author)	[LiteratureReference:9864936] A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34 [LiteratureReference:9864949] E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype [LiteratureReference:9864965] Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex [LiteratureReference:9864978] Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients [LiteratureReference:9864987] Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex
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No pathways have been reviewed or authored by Cox, R P (9864934)