The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14 (Q24676190)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2883891%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

title

The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2883891%20AND%20SRC:MED&resulttype=core&format=json

glycogen storage disease VI

6 October 2019

main subject

1 reference

C B Newgard

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2883891%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

R J Fletterick

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2883891%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

L A Anderson

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2883891%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

R V Lebo

series ordinal

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2883891%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

language of work or name

English

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publication date

1 April 1987

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2883891%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

6 October 2019

published in

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6 October 2019

volume

40

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6 October 2019

issue

4

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6 October 2019

page(s)

351-364

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Detection of specific sequences among DNA fragments separated by gel electrophoresis

6 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=1684093

Enzymatic studies of hepatic fragments; application to the classification of glycogenoses

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684093

Codon usage and tRNA content in unicellular and multicellular organisms

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684093

High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684093

The molecular genetics of human hemoglobins

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684093

Recombination within and between the human insulin and beta-globin gene loci

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684093

The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684093

Spot-blot analysis of sorted chromosomes assigns a fructose intolerance disease locus to chromosome 9.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684093

Design and application of a versatile triple-laser cell and chromosome sorter

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684093

Quantitation of muscle glycogen phosphorylase mRNA and enzyme amounts in adult rat tissues

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684093

A strategy for using multiple linked markers for genetic counseling

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684093

Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684093

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle 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=1684093

McArdle's disease: A study on the molecular basis of two different etiologies of myophosphorylase deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684093

Complete cDNA sequence for rabbit muscle glycogen phosphorylase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684093

Human liver glycogen phosphorylase. Kinetic properties and assay in biopsy specimens

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684093

The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684093

Molecular weight estimation of rat uterine phosphorylase

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684093

Liver phosphorylase deficiency in glycogenosis type VI: documentation by biochemical analysis of hepatic biopsy specimens

28 November 2018

1 reference

12 December 2020

Molecular studies on glycogen storage diseases

1 reference

12 December 2020

Myophosphorylase deficiency: two different molecular etiologies

1 reference

12 December 2020

DNA analysis in the diagnosis of hemoglobin disorders

1 reference

12 December 2020

A sensitive test for prenatal diagnosis of sickle cell anemia: direct analysis of amniocyte DNA with MstII

1 reference

12 December 2020

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

12 December 2020

Gene expression: DNA methylation — how important in gene control?

1 reference

12 December 2020

Prenatal diagnosis and carrier detection of classic phenylketonuria by gene analysis

1 reference

12 December 2020

Prenatal diagnosis by chorionic villus sampling: lessons of the first 600 cases

1 reference

12 December 2020

Molecular properties and transformations of glycogen phosphorylase in animal tissues

1 reference

12 December 2020

The relationship of epinephrine and glucagon to liver phosphorylase. II. Enzymatic inactivation of liver phosphorylase

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2883891%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

PubMed publication ID

2883891

1 reference