(Q24678528)

English

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

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scholarly article

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

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Galactose-1-phosphate uridylyltransferase

1 reference

GOA release 2020-03-11

UDP-glucose:hexose-1-phosphate uridylyltransferase activity

1 reference

GOA release 2020-03-11

author name string

J K Reichardt

1

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S Packman

2

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S L Woo

3

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language of work or name

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publication date

October 1991

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American Journal of Human Genetics

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49

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4

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860-7

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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=1683190

7 April 2017

The CpG dinucleotide and human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683190

7 April 2017

Deficit of uridine diphosphate galactose in galactosaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683190

7 April 2017

Curious neurologic sequelae in galactosemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683190

28 September 2017

Liver galactose-l-phosphate uridyl transferase: activity in normal and galactosemic subjects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683190

28 September 2017

Nucleotide sequences of the gal E gene and the gal T gene of E. coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683190

28 September 2017

Conservation of short patches of amino acid sequence amongst proteins with a common function but evolutionarily distinct origins: implications for cloning genes and for structure-function analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683190

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=1683190

28 September 2017

UDP-glucose: alpha-D-galactose-1-phosphate uridylytransferase activity in cultured human fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683190

30 May 2018

Characteristics of galactose-1-phosphate uridyl transferase in intestinal mucosa of normal and galactosemic humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683190

30 May 2018

Progressive cerebellar and extrapyramidal motor disturbances in galactosaemic twins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683190

30 May 2018

Primary structure of the Saccharomyces cerevisiae GAL7 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683190

30 May 2018

Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683190

30 May 2018

Speech and language deficits in early-treated children with galactosemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683190

28 November 2018

Late onset of distinct neurologic syndromes in galactosemic siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/1897530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Galactose-1-phosphate uridyl transferase in density-fractionated erythrocytes. Studies of normal and mutant enzymes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1897530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Galactose-1-phosphate uridylyltransferase: identification of histidine-164 and histidine-166 as critical residues by site-directed mutagenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1897530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Galactosemia: how does long-term treatment change the outcome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/1897530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective galactosylation of proteins in cultured skin fibroblasts from galactosaemic patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/1897530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Consolidated OpenCitations Corpus – April 2017

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1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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