A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype

A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype

Item
http://www.wikidata.org/entity/Q24672659
Environmental influences on familial discordance of phenotype in people with homocystinuria: a case reportThe 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.Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis.High prevalence of a mutation in the cystathionine beta-synthase gene.Improvement of gamete quality by stimulating and feeding the endogenous antioxidant system: mechanisms, clinical results, insights on gene-environment interactions and the role of diet.Cystathionine β-synthase deficiency: Of mice and men.Surrogate genetics and metabolic profiling for characterization of human disease alleles.CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.
P2860

A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype

Item
http://www.wikidata.org/entity/Q24672659
description
1995 nî lūn-bûn
@nan
1995 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
A missense mutation (I278T) in ...... d with mild clinical phenotype
@ast
A missense mutation (I278T) in ...... d with mild clinical phenotype
@en
A missense mutation (I278T) in ...... d with mild clinical phenotype
@nl
type
label
A missense mutation (I278T) in ...... d with mild clinical phenotype
@ast
A missense mutation (I278T) in ...... d with mild clinical phenotype
@en
A missense mutation (I278T) in ...... d with mild clinical phenotype
@nl
prefLabel
A missense mutation (I278T) in ...... d with mild clinical phenotype
@ast
A missense mutation (I278T) in ...... d with mild clinical phenotype
@en
A missense mutation (I278T) in ...... d with mild clinical phenotype
@nl
P1433
P1476
P2093
P2860
P304
P31
P3181
P407
P433
P478
P577
P698
P932
P3181
P1433
P1476
A missense mutation (I278T) in ...... d with mild clinical phenotype
@en
P2093
P2860
P304
P31
P3181
P407
P433
P478
P577
P698
P932