about
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)Galactose toxicity in animalsA genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in AsiansA novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotypeAn unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.Developmental regulation of galactokinase in suckling mouse liver by the Egr-1 transcription factor.Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.Epigenetic and SP1-mediated regulation is involved in the repression of galactokinase 1 gene in the liver of neonatal piglets born to betaine-supplemented sows.Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
P2860
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P2860
description
1996 nî lūn-bûn
@nan
1996 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Fine structure of the human galactokinase GALK1 gene
@ast
Fine structure of the human galactokinase GALK1 gene
@en
Fine structure of the human galactokinase GALK1 gene
@en-gb
Fine structure of the human galactokinase GALK1 gene
@nl
type
label
Fine structure of the human galactokinase GALK1 gene
@ast
Fine structure of the human galactokinase GALK1 gene
@en
Fine structure of the human galactokinase GALK1 gene
@en-gb
Fine structure of the human galactokinase GALK1 gene
@nl
prefLabel
Fine structure of the human galactokinase GALK1 gene
@ast
Fine structure of the human galactokinase GALK1 gene
@en
Fine structure of the human galactokinase GALK1 gene
@en-gb
Fine structure of the human galactokinase GALK1 gene
@nl
P2093
P356
P1433
P1476
Fine structure of the human galactokinase GALK1 gene
@en
P2093
D J Bergsma
D Stambolian
S Van Horn
P356
10.1101/GR.6.10.980
P407
P577
1996-10-01T00:00:00Z