(Q54575766)

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

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scholarly article

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

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

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

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glycogen storage disease

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author name string

Yoriko Endo

1

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

Asako Horinishi

2

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

Matthias Vorgerd

3

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

Yoshiko Aoyama

4

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

Tetsu Ebara

5

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

Toshio Murase

6

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

Masato Odawara

7

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

Teodor Podskarbi

8

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

Yoon S Shin

9

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

Minoru Okubo

10

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

publication date

19 September 2006

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

Journal of Human Genetics

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Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

51

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Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

11

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Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

958-963

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Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

https://scigraph.springernature.com/pub.10.1007/s10038-006-0045-x

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Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of glycogen storage disease type III.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of glycogen storage disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of Egyptian patients with glycogen storage disease type IIIa

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel intronic polymorphisms (IVS6-73A/G and IVS21+124A/G) in the glycogen-debranching enzyme (AGL) gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis of the AGL gene: five novel mutations in GSD III patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a 5' splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa

1 reference

https://pubmed.ncbi.nlm.nih.gov/17047887

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-006-0045-X

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

1 reference

Europe PubMed Central

1 June 2018

http://europepmc.org/abstract/MED/17047887

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