(Q24671452)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

main subject

glycogen storage disease

1 reference

K J Lei

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Y T Chen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

H Chen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

L J Wong

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

J L Liu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

A McConkie-Rosell

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

J L Van Hove

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

H C Ou

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

N J Yeh

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

L Y Pan

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

language of work or name

English

0 references

publication date

1 October 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

21 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

volume

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

page(s)

766-771

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a

21 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=1801521

Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801521

The CpG dinucleotide and human genetic disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801521

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801521

Ubiquitous and tenacious methylation of the CpG site in codon 248 of the p53 gene may explain its frequent appearance as a mutational hot spot in human cancer

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801521

Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801521

DNA methylation and mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801521

Multiple determinants of eukaryotic mRNA stability

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801521

Regulation of mRNA turnover in eukaryotic cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801521

Transcriptional control in hepatocytes: a window on development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801521

The complexities of eukaryotic transcription initiation: regulation of preinitiation complex assembly

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801521

Deoxycytidine methylation and the origin of spontaneous transition mutations in mammalian cells.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801521

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801521

A robotics-assisted procedure for large scale cystic fibrosis mutation analysis.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801521

Renal disease in type I glycogen storage disease

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7573034

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A new microtechnique for the analysis of the human hepatic microsomal glucose-6-phosphatase system

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7573034

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7573034

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

4862382

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

4862382

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573034%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

2 references

Consolidated OpenCitations Corpus – April 2017

4862382