(Q24672863)

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Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family

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scholarly article

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Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family (English)

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author name string

J L Fridovich-Keil

1

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S D Langley

2

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L A Mazur

5

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J C Lennon

4

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P P Dembure

5

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J L Elsas

6

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language of work or name

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publication date

March 1995

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American Journal of Human Genetics

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56

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3

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640-6

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A common mutation associated with the Duarte galactosemia allele

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801186

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801186

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801186

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801186

7 April 2017

The human galactose-1-phosphate uridyltransferase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801186

7 April 2017

SV40-transformed simian cells support the replication of early SV40 mutants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801186

7 April 2017

A yeast expression system for human galactose-1-phosphate uridylyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801186

28 September 2017

Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801186

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801186

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801186

28 September 2017

A simple spot screening test for galactosemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801186

30 May 2018

Efficient site-directed in vitro mutagenesis using phagemid vectors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801186

19 June 2018

An improved assay of erythrocyte and leukocyte galactose-1-phosphate uridyl transferase: stabilization of the enzyme by a thiol protective reagent.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801186

28 November 2018

Semi-micro techniques for the genotyping of galactokinase and galactose-1-phosphate uridyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/7887417

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY

1 reference

https://pubmed.ncbi.nlm.nih.gov/7887417

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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