Defective MUT does not isomerise L-MM-CoA to SUCC-CoA - Wikidata - awgldk - TriplyDB

Defective MUT does not isomerise L-MM-CoA to SUCC-CoA

Defective MUT does not isomerise L-MM-CoA to SUCC-CoA

http://www.wikidata.org/entity/Q50289131

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Defective MUT causes methylmalonic aciduria mut type

P527

Q45316454-E9761389-8145-427D-987C-0CC6823FF08B

P527

Defective MUT does not isomerise L-MM-CoA to SUCC-CoA

http://www.wikidata.org/entity/Q50289131

description

An instance of the biological ...... oA to SUCC-CoA in Homo sapiens

@en

biologisch proces

@nl

name

Defective MUT does not isomerise L-MM-CoA to SUCC-CoA

@en

type

label

Defective MUT does not isomerise L-MM-CoA to SUCC-CoA

@en

prefLabel

Defective MUT does not isomerise L-MM-CoA to SUCC-CoA

@en

P2860

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P2888

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P31

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P361

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P3937

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P527

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P703

Q50289131-02E91643-F258-4E46-9F86-11B5B162B05D

P2860

Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction

Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation

Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria

Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning

N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients

Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations

Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.

Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.

Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

P2888

reactome:R-HSA-3322971

P31

biological process

P361

Defective MUT causes methylmalonic aciduria mut type

P3937

R-HSA-3322971

http://www.w3.org/2001/XMLSchema#string

P527

(R)-methylmalonyl-CoA

P703