Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.

Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.

Item
http://www.wikidata.org/entity/Q35197852
Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduriaGenetic 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 aciduriaClustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemiaHeterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloningMolecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthaseCorrection of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector.Genome-wide significant predictors of metabolites in the one-carbon metabolism pathwayCloning of functional alpha propionyl CoA carboxylase and correction of enzyme deficiency in pccA fibroblastsDifferential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts.Methylmalonic and propionic acidemias: clinical management update.Disruption of phase during PCR amplification and cloning of heterozygous target sequences.Primary structure and activity of mouse methylmalonyl-CoA mutase.
P2860

Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.

Item
http://www.wikidata.org/entity/Q35197852
description
1990 nî lūn-bûn
@nan
1990 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի մարտին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Heterogeneous alleles and expr ...... in mut methylmalonic acidemia.
@ast
Heterogeneous alleles and expr ...... in mut methylmalonic acidemia.
@en
type
label
Heterogeneous alleles and expr ...... in mut methylmalonic acidemia.
@ast
Heterogeneous alleles and expr ...... in mut methylmalonic acidemia.
@en
prefLabel
Heterogeneous alleles and expr ...... in mut methylmalonic acidemia.
@ast
Heterogeneous alleles and expr ...... in mut methylmalonic acidemia.
@en
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932
P1433
P1476
Heterogeneous alleles and expr ...... in mut methylmalonic acidemia.
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932