Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.
about
Identification 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 genotypesRegulatory effects of galactose on galactose-1-phosphate uridyltransferase activity on human hepatoblastoma HepG2 cells.A yeast expression system for human galactose-1-phosphate uridylyltransferase.Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Mutations in galactosemia.Reply to Reichardt.Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.
P2860
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P2860
Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.
description
1992 nî lūn-bûn
@nan
1992 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի մարտին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Characterization of two missen ...... r mechanisms for galactosemia.
@ast
Characterization of two missen ...... r mechanisms for galactosemia.
@en
Characterization of two missen ...... r mechanisms for galactosemia.
@nl
type
label
Characterization of two missen ...... r mechanisms for galactosemia.
@ast
Characterization of two missen ...... r mechanisms for galactosemia.
@en
Characterization of two missen ...... r mechanisms for galactosemia.
@nl
prefLabel
Characterization of two missen ...... r mechanisms for galactosemia.
@ast
Characterization of two missen ...... r mechanisms for galactosemia.
@en
Characterization of two missen ...... r mechanisms for galactosemia.
@nl
P2093
P1433
P1476
Characterization of two missen ...... ar mechanisms for galactosemia
@en
P2093
P304
P356
10.1016/0888-7543(92)90453-Y
P577
1992-03-01T00:00:00Z