Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria

Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria

Item
http://www.wikidata.org/entity/Q28306905
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutationsThe 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.A multilocus genotyping assay for candidate markers of cardiovascular disease riskCystathionine 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.Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.A Multilocus Genotyping Assay for Cardiovascular Disease
P2860

Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria

Item
http://www.wikidata.org/entity/Q28306905
description
1994 nî lūn-bûn
@nan
1994 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
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
Characterization of a cystathi ...... 6 nonresponsive homocystinuria
@ast
Characterization of a cystathi ...... 6 nonresponsive homocystinuria
@en
Characterization of a cystathi ...... 6 nonresponsive homocystinuria
@nl
type
label
Characterization of a cystathi ...... 6 nonresponsive homocystinuria
@ast
Characterization of a cystathi ...... 6 nonresponsive homocystinuria
@en
Characterization of a cystathi ...... 6 nonresponsive homocystinuria
@nl
prefLabel
Characterization of a cystathi ...... 6 nonresponsive homocystinuria
@ast
Characterization of a cystathi ...... 6 nonresponsive homocystinuria
@en
Characterization of a cystathi ...... 6 nonresponsive homocystinuria
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P921
P356
P1433
P1476
Characterization of a cystathi ...... 6 nonresponsive homocystinuria
@en
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P921