Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase
about
Galactose toxicity in animalsIdentification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single familyGalactosemia: a strategy to identify new biochemical phenotypes and molecular genotypesA common mutation associated with the Duarte galactosemia alleleClinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.A yeast expression system for human galactose-1-phosphate uridylyltransferase.Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia modelAdvantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferaseFunctional and structural impact of the most prevalent missense mutations in classic galactosemia.The relationship of genotype to cognitive outcome in galactosaemia.Defective GALT does not transfer UMP to Gal1PGALT transfers UMP from UDP-Glc to Gal1P to form UDP-Gal
P2860
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P2860
Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase
description
1991 nî lūn-bûn
@nan
1991 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Molecular characterization of ...... 1-phosphate uridyl transferase
@ast
Molecular characterization of ...... 1-phosphate uridyl transferase
@en
Molecular characterization of ...... 1-phosphate uridyl transferase
@nl
type
label
Molecular characterization of ...... 1-phosphate uridyl transferase
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Molecular characterization of ...... 1-phosphate uridyl transferase
@en
Molecular characterization of ...... 1-phosphate uridyl transferase
@nl
prefLabel
Molecular characterization of ...... 1-phosphate uridyl transferase
@ast
Molecular characterization of ...... 1-phosphate uridyl transferase
@en
Molecular characterization of ...... 1-phosphate uridyl transferase
@nl
P2093
P2860
P921
P3181
P1476
Molecular characterization of ...... 1-phosphate uridyl transferase
@en
P2093
P2860
P3181
P407
P577
1991-10-01T00:00:00Z