A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.

A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.

Item
http://www.wikidata.org/entity/Q34568523
Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteinsA revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar.Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.Hypermethioninemias of genetic and non-genetic origin: A review.Recognition and diagnostic approach to acute metabolic disorders in the neonatal period.Cysteamine revisited: repair of arginine to cysteine mutations.Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.Clinical genetics and genomic medicine in Qatar
P2860

A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.

Item
http://www.wikidata.org/entity/Q34568523
description
2006 nî lūn-bûn
@nan
2006 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
A common mutation in the CBS g ...... uria in the Qatari population.
@ast
A common mutation in the CBS g ...... uria in the Qatari population.
@en
A common mutation in the CBS g ...... uria in the Qatari population.
@nl
type
label
A common mutation in the CBS g ...... uria in the Qatari population.
@ast
A common mutation in the CBS g ...... uria in the Qatari population.
@en
A common mutation in the CBS g ...... uria in the Qatari population.
@nl
prefLabel
A common mutation in the CBS g ...... uria in the Qatari population.
@ast
A common mutation in the CBS g ...... uria in the Qatari population.
@en
A common mutation in the CBS g ...... uria in the Qatari population.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
A common mutation in the CBS g ...... uria in the Qatari population.
@en
P2093
P304
P31
P356
P433
P478
P577
P698