Defective MMACHC does not decyanate CNCbl - sprookjes - yvandenbroek - TriplyDB

Defective MMACHC does not decyanate CNCbl

Defective MMACHC does not decyanate CNCbl

http://www.wikidata.org/entity/Q50289121

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Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC

P527

Q45316446-A3DA823F-DBC6-4549-89DF-CAC7B179192F

P527

Defective MMACHC does not decyanate CNCbl

http://www.wikidata.org/entity/Q50289121

description

An instance of the biological ...... ecyanate CNCbl in Homo sapiens

@en

biologisch proces

@nl

name

Defective MMACHC does not decyanate CNCbl

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type

label

Defective MMACHC does not decyanate CNCbl

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prefLabel

Defective MMACHC does not decyanate CNCbl

@en

P2860

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Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

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reactome:R-HSA-3318590

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biological process

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Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC

P3937

R-HSA-3318590

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

P527

P703