The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
about
Cystathionine beta-synthase is essential for female reproductive functionA revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian PeninsulaGenetics of ectopia lentis.Endothelial dysfunction: the link between homocysteine and hydrogen sulfide.Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.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.
P2860
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P2860
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
description
2006 nî lūn-bûn
@nan
2006 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի փետրվարին 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
The p.T191M mutation of the CB ...... n, Portugal and South America.
@ast
The p.T191M mutation of the CB ...... n, Portugal and South America.
@en
The p.T191M mutation of the CB ...... n, Portugal and South America.
@nl
type
label
The p.T191M mutation of the CB ...... n, Portugal and South America.
@ast
The p.T191M mutation of the CB ...... n, Portugal and South America.
@en
The p.T191M mutation of the CB ...... n, Portugal and South America.
@nl
prefLabel
The p.T191M mutation of the CB ...... n, Portugal and South America.
@ast
The p.T191M mutation of the CB ...... n, Portugal and South America.
@en
The p.T191M mutation of the CB ...... n, Portugal and South America.
@nl
P2093
P50
P1476
The p.T191M mutation of the CB ...... in, Portugal and South America
@en
P2093
Alfonso Córdoba
Carla Asteggiano
Carola Grosso
Jaime Bernal
Jaime Dalmau
Laura Vilarinho
Marga Rodés
Maria Antonia Vilaseca
Marina Szlago
Marta Bermudez
P2888
P304
P356
10.1007/S10038-006-0362-0
P50
P577
2006-02-15T00:00:00Z