(Q54295023)

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Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.

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Europe PubMed Central

27 May 2018

http://europepmc.org/abstract/MED/19834502

Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations. (English)

1 reference

Europe PubMed Central

27 May 2018

http://europepmc.org/abstract/MED/19834502

glycogen storage disease

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author name string

Yoshiko Aoyama

1

1 reference

Europe PubMed Central

27 May 2018

http://europepmc.org/abstract/MED/19834502

Isil Ozer

2

1 reference

Europe PubMed Central

27 May 2018

http://europepmc.org/abstract/MED/19834502

Mubeccel Demirkol

3

1 reference

Europe PubMed Central

27 May 2018

http://europepmc.org/abstract/MED/19834502

Tetsu Ebara

4

1 reference

Europe PubMed Central

27 May 2018

http://europepmc.org/abstract/MED/19834502

Toshio Murase

5

1 reference

Europe PubMed Central

27 May 2018

http://europepmc.org/abstract/MED/19834502

Teodor Podskarbi

6

1 reference

Europe PubMed Central

27 May 2018

http://europepmc.org/abstract/MED/19834502

Yoon S Shin

7

1 reference

Europe PubMed Central

27 May 2018

http://europepmc.org/abstract/MED/19834502

Gulden Gokcay

8

1 reference

Europe PubMed Central

27 May 2018

http://europepmc.org/abstract/MED/19834502

Minoru Okubo

9

1 reference

Europe PubMed Central

27 May 2018

http://europepmc.org/abstract/MED/19834502

publication date

16 October 2009

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Europe PubMed Central

27 May 2018

http://europepmc.org/abstract/MED/19834502

Journal of Human Genetics

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27 May 2018

http://europepmc.org/abstract/MED/19834502

54

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27 May 2018

http://europepmc.org/abstract/MED/19834502

11

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Europe PubMed Central

27 May 2018

http://europepmc.org/abstract/MED/19834502

681-686

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Europe PubMed Central

27 May 2018

http://europepmc.org/abstract/MED/19834502

https://scigraph.springernature.com/pub.10.1038/jhg.2009.100

0 references

Glycogen storage disease: clinical, biochemical, and molecular heterogeneity

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

21 January 2018

Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

21 January 2018

Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

21 January 2018

Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

21 January 2018

Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

21 January 2018

Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

21 January 2018

Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

21 January 2018

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

21 January 2018

Molecular characterization of Egyptian patients with glycogen storage disease type IIIa

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

21 January 2018

Clustal W and Clustal X version 2.0

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

21 January 2018

Automated splicing mutation analysis by information theory.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

21 January 2018

Identification of the catalytic residues of bifunctional glycogen debranching enzyme

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

21 January 2018

Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

21 January 2018

The Subgroups of Type III Glycogenosis

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

7 January 2021

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inferred from DOI database lookup

Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

7 January 2021

based on heuristic

inferred from DOI database lookup

Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.100

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/JHG.2009.100

1 reference

Europe PubMed Central

27 May 2018

http://europepmc.org/abstract/MED/19834502

release_7iedmsfetzg4rof2rpepw6smli

1 reference

https://api.fatcat.wiki/v0/release/7iedmsfetzg4rof2rpepw6smli

24 November 2022

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mapped directly with Wikidata item

1 reference

Europe PubMed Central

27 May 2018

http://europepmc.org/abstract/MED/19834502

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