Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
about
Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementationCloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduriaHeterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloningFunctional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiencyGlutathione-dependent one-electron transfer reactions catalyzed by a B₁₂ trafficking protein.Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.Methylmalonic and propionic acidemias: clinical management update.Methylmalonic Acidemia Diagnosis by Laboratory Methods.Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants.Genomic structure of murine methylmalonyl-CoA mutase: evidence for genetic and epigenetic mechanisms determining enzyme activityCoordination chemistry controls the thiol oxidase activity of the B12-trafficking protein CblC.Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia.
P2860
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P2860
Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
description
1988 nî lūn-bûn
@nan
1988 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
@ast
Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
@en
type
label
Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
@ast
Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
@en
prefLabel
Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
@ast
Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
@en
P2093
P2860
P1476
Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
@en
P2093
D H Ledbetter
F D Ledley
M R Lumetta
P VanTuinen
S A Ledbetter
P2860
P304
P407
P50
P577
1988-06-01T00:00:00Z