Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning
about
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 acidemiaMolecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthaseGenetic disorders of vitamin B12 metabolism: eight complementation groups – eight genesCloning 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.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 activityHomology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria.Defective MUT does not isomerise L-MM-CoA to SUCC-CoAMutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia.Metabolic etiologies in West syndrome.
P2860
Q24561377-718A4443-29E6-470A-9B78-3802C9518F98Q24594885-FE1047A8-79F0-4339-9A7B-A5D36F5A4D21Q24605458-62CCC9D9-3818-4AE2-BBEA-F73A51449A71Q24672960-05EDB2D3-4AF9-40AB-8AE1-B3B96688B2CEQ28280177-ADCA5456-AA02-4A32-9F78-83CBF1427C84Q29541652-D95BB3D1-1E8A-4C66-BF2E-D2A1067008D2Q35194245-B31F47D1-83B4-4414-A44C-8D4CDFB1D63DQ35819677-7B4F2797-99C3-4F2B-99B6-917E7E30C098Q38960827-C24B7AAC-5F4C-4F37-80A5-E9F2F1B79D11Q42052420-21A3FF7A-0792-4C33-92BC-70E112370548Q42832026-A49D1BC3-5B66-4F34-A477-87641E602287Q42845526-3921C786-F055-4AFD-9443-724C75FA8107Q50289131-901A5DBE-58F2-4E38-A02F-34B8FE253070Q53110025-709DAAB8-F29A-4DD3-AA38-6130211FF3BBQ55235450-C24EF995-CA3C-4942-948E-44F3ACD2842B
P2860
Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning
description
1990 nî lūn-bûn
@nan
1990 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի նոյեմբերին 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
Heterozygous mutations at the ...... se-chain-reaction cDNA cloning
@ast
Heterozygous mutations at the ...... se-chain-reaction cDNA cloning
@en
Heterozygous mutations at the ...... se-chain-reaction cDNA cloning
@nl
type
label
Heterozygous mutations at the ...... se-chain-reaction cDNA cloning
@ast
Heterozygous mutations at the ...... se-chain-reaction cDNA cloning
@en
Heterozygous mutations at the ...... se-chain-reaction cDNA cloning
@nl
prefLabel
Heterozygous mutations at the ...... se-chain-reaction cDNA cloning
@ast
Heterozygous mutations at the ...... se-chain-reaction cDNA cloning
@en
Heterozygous mutations at the ...... se-chain-reaction cDNA cloning
@nl
P2860
P1476
Heterozygous mutations at the ...... se-chain-reaction cDNA cloning
@en
P2093
P2860
P304
P407
P577
1990-11-01T00:00:00Z