Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system

Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system

Item
http://www.wikidata.org/entity/Q28241950
A pathogenic linked mutation in the catalytic core of human cystathionine beta-synthase disrupts allosteric regulation and allows kinetic characterization of a full-length dimerThe molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutationsImpaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.Surrogate genetics and metabolic profiling for characterization of human disease alleles.A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA.Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency.The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
P2860

Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system

Item
http://www.wikidata.org/entity/Q28241950
description
1994 nî lūn-bûn
@nan
1994 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1994年の論文
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1994年論文
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1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Identical genotypes in sibling ...... ed bacterial expression system
@ast
Identical genotypes in sibling ...... ed bacterial expression system
@en
Identical genotypes in sibling ...... ed bacterial expression system
@nl
type
label
Identical genotypes in sibling ...... ed bacterial expression system
@ast
Identical genotypes in sibling ...... ed bacterial expression system
@en
Identical genotypes in sibling ...... ed bacterial expression system
@nl
prefLabel
Identical genotypes in sibling ...... ed bacterial expression system
@ast
Identical genotypes in sibling ...... ed bacterial expression system
@en
Identical genotypes in sibling ...... ed bacterial expression system
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P921
P356
P1433
P1476
Identical genotypes in sibling ...... ed bacterial expression system
@en
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P921