(Q28633785)

3 February 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504405%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease (English)

2 references

3 February 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504405%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference

5

R J Desnick

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504405%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

author name string

C M Eng

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504405%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

L A Resnick-Silverman

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504405%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

D J Niehaus

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504405%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

K H Astrin

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504405%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

language of work or name

English

0 references

publication date

1 December 1993

2 references

3 February 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504405%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

19 October 2019

published in

2 references

3 February 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504405%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

volume

53

2 references

3 February 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504405%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

issue

6

2 references

3 February 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504405%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

page(s)

1186-1197

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504405%20AND%20SRC:MED&resulttype=core&format=json

The CpG dinucleotide and human genetic disease

19 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Nucleotide sequence of the human alpha-galactosidase A gene

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

17 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

17 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

DNA sequencing with chain-terminating inhibitors

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

The structure and evolution of the human beta-globin gene family

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Construction of a 5.2-megabase physical map of the human X chromosome at Xq22 using pulsed-field gel electrophoresis and yeast artificial chromosomes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Specific sequences in native DNA that arrest synthesis by DNA polymerase alpha

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Replication of Eukaryotic Chromosomes: A Close-up of the Replication Fork

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Hemophilia B in a male with a four-base insertion that arose in the germline of his mother

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Molecular basis of base substitution hotspots in Escherichia coli

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Detection of Fabry's disease heterozygotes by hair root analysis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682507

Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification

27 November 2018

1 reference

12 December 2020

Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes

1 reference

12 December 2020

Mechanisms of insertional mutagenesis in human genes causing genetic disease

1 reference

12 December 2020

Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g+1 to t substitution in a 5′-splice site causing Fabry disease

1 reference

12 December 2020

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

12 December 2020

Genetic Inactivation of the α-Galactosidase Locus in Carriers of Fabry's Disease

1 reference

12 December 2020

Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes

1 reference

12 December 2020

Identifiers

2413135

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

2413135

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504405%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

2 references

Consolidated OpenCitations Corpus – April 2017

2413135