(Q43601178)

English

Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18979223%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18979223%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

single-nucleotide polymorphism

1 reference

based on heuristic

inferred from title

João Paulo Oliveira

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18979223%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Filipa Carvalho

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18979223%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

S Ferreira

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18979223%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

J Barceló

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18979223%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

P Gaspar

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18979223%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

M C Sá Miranda

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18979223%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

J-E Månsson

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18979223%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

publication date

3 November 2008

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18979223%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18979223%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

31 Suppl 2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18979223%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

S247-53

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18979223%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

https://scigraph.springernature.com/pub.10.1007/s10545-008-0818-9

0 references

Sequence variations in the first exon of alpha-galactosidase A.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0818-9

21 January 2018

CART classification of human 5' UTR sequences

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0818-9

21 January 2018

Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0818-9

21 January 2018

Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0818-9

21 January 2018

Nucleotide sequence of the human alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0818-9

21 January 2018

Meet the multifunctional and sexy glycoforms of glycodelin

1 reference

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21 January 2018

Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease

1 reference

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21 January 2018

Incorporating chemical modification constraints into a dynamic programming algorithm for prediction of RNA secondary structure

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0818-9

21 January 2018

UTRdb and UTRsite: a collection of sequences and regulatory motifs of the untranslated regions of eukaryotic mRNAs

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0818-9

21 January 2018

Skewed X inactivation in healthy individuals and in different diseases

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0818-9

21 January 2018

The implications of structured 5' untranslated regions on translation and disease

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0818-9

21 January 2018

A mutation in the 5' untranslated region of the human alpha-galactosidase A gene in high-activity variants inhibits specific protein binding

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0818-9

21 January 2018

The assay of sphingolipid hydrolases in white blood cells with labelled natural substrates

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0818-9

21 January 2018

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0818-9

21 January 2018

Regulation of mRNA translation by 5'- and 3'-UTR-binding factors

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0818-9

21 January 2018

Binding sites in mammalian genes and viral gene regulatory regions recognized by methylated DNA-binding protein

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0818-9

21 January 2018

Increasing binding of a transcription factor immediately downstream of the cap site of a cytomegalovirus gene represses expression

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0818-9

21 January 2018

Internet resources for the functional analysis of 5′ and 3′ untranslated regions of eukaryotic mRNAs

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0818-9

21 January 2018

An efficient salt-chloroform extraction of DNA from blood and tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Replacement Therapy for Inherited Enzyme Deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human methylated DNA-binding protein. Determinants of a pBR322 recognition site

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fast and sensitive silver staining of DNA in polyacrylamide gels

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural features in eukaryotic mRNAs that modulate the initiation of translation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of methylation in the 5' region of the human alpha-galactosidase A gene containing a binding site for methylated DNA-binding protein/RFX1-4.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18979223

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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