Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria
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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
Q24673176-860A38D4-7C15-4D74-BE27-40806516AE7AQ34390750-90E69365-CFF7-4125-812C-D115C0A38AECQ35024990-9F4FCCD5-AAD9-4DB4-A5D6-2AC60D5B2E03Q42392887-E4653C6D-721F-4E8B-80B3-48AE48900077Q42561293-7C86F4C4-32A7-4092-8CDE-B7E7DB6D45A1Q42589602-5D6EA0A7-4487-453E-8DBE-198D74158B48Q50539015-7A1D7228-17E0-40E5-8DF3-A66CD4FC07D3Q57996196-16B2D363-B899-42AC-9AEB-1035534458FC
P2860
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria
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
P2093
P356
P1476
Characterization of a cystathi ...... 6 nonresponsive homocystinuria
@en
P2093
M T Geraghty
R de Franchis
P304
P356
10.1093/HMG/3.10.1883
P407
P577
1994-10-01T00:00:00Z