(Q24562068)

English

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle

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scholarly article

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Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle (English)

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glycogen storage disease

1 reference

based on heuristic

inferred from title

author name string

J Shen

1

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Y Bao

2

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H M Liu

3

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P Lee

4

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J V Leonard

5

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Y T Chen

6

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language of work or name

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publication date

15 July 1996

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Journal of Clinical Investigation

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98

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352-7

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2

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Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507437

24 March 2017

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507437

24 March 2017

Biosynthesis of the plant photoreceptor phytochrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507437

24 March 2017

Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507437

24 March 2017

Transcription-factor mutations and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507437

27 September 2017

Developmentally regulated expression of an exon containing a stop codon in the gene for glutamic acid decarboxylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507437

27 September 2017

Nonsense mutations inhibit splicing of MVM RNA in cis when they interrupt the reading frame of either exon of the final spliced product.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507437

27 September 2017

Assignment of the human glycogen debrancher gene to chromosome 1p21.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507437

27 September 2017

Preparation and properties of the glycogen-debranching enzyme from rabbit liver

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507437

30 May 2018

Alternative splicing generates a secreted form of N-CAM in muscle and brain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507437

30 May 2018

Sex-lethal, a Drosophila sex determination switch gene, exhibits sex-specific RNA splicing and sequence similarity to RNA binding proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507437

30 May 2018

Debranching enzyme from rabbit skeletal muscle. Purification, properties and physiological role

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507437

30 May 2018

Debranching enzyme from rabbit skeletal muscle; evidence for the location of two active centres on a single polypeptide chain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507437

30 May 2018

The Subgroups of Type III Glycogenosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8755644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8755644

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI118799

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

release_xf3t7jpo5feezlf2q6mqp7zcfe

1 reference

https://api.fatcat.wiki/v0/release/xf3t7jpo5feezlf2q6mqp7zcfe

24 November 2022

based on heuristic

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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