Molecular characterization of galactosemia (type 1) mutations in Japanese.
about
A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in AsiansRelationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.Sweet and sour: an update on classic galactosemia.Classical galactosaemia in Chinese: A case report and review of disease incidence.Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activityClinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.Low prevalence of classical galactosemia in Korean population.Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations.Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population.
P2860
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P2860
Molecular characterization of galactosemia (type 1) mutations in Japanese.
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Molecular characterization of galactosemia (type 1) mutations in Japanese.
@ast
Molecular characterization of galactosemia (type 1) mutations in Japanese.
@en
Molecular characterization of galactosemia
@nl
type
label
Molecular characterization of galactosemia (type 1) mutations in Japanese.
@ast
Molecular characterization of galactosemia (type 1) mutations in Japanese.
@en
Molecular characterization of galactosemia
@nl
prefLabel
Molecular characterization of galactosemia (type 1) mutations in Japanese.
@ast
Molecular characterization of galactosemia (type 1) mutations in Japanese.
@en
Molecular characterization of galactosemia
@nl
P2093
P356
P1433
P1476
Molecular characterization of galactosemia (type 1) mutations in Japanese
@en
P2093
Furuyama J
Yamazaki T
P356
10.1002/HUMU.1380060108
P577
1995-01-01T00:00:00Z