Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes - Wikidata - awgldk - TriplyDB

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

http://www.wikidata.org/entity/Q24672939

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Galactose toxicity in animals Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling.Molecular basis for Duarte and Los Angeles variant galactosemia.Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene.Mutations in galactosemia.The relationship of genotype to cognitive outcome in galactosaemia.Reply to Reichardt.

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P2860

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

http://www.wikidata.org/entity/Q24672939

description

1995 nî lūn-bûn

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1995 թուականի Մարտին հրատարակուած գիտական յօդուած

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1995 թվականի մարտին հրատարակված գիտական հոդված

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1995年の論文

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1995年論文

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1995年論文

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1995年論文

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1995年論文

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1995年論文

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name

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

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Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

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Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

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Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

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Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

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Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

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prefLabel

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

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Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

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Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

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American Journal of Human Genetics

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Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

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A Brown

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E Steele

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J Evinger

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J L Fridovich-Keil

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L J Elsas

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R Singh

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S Langley

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P2860

The human galactose-1-phosphate uridyltransferase gene

Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase

A common mutation associated with the Duarte galactosemia allele

Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase

Experience of the Manitoba Perinatal Screening Program, 1965-85

Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.

Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.

The enzymatic transformation of uridine diphosphate glucose into a galactose derivative.

Molecular characterization of the H319Q galactosemia mutation.

Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

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630-639

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