(Q73851766)

English

Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT)

scientific article published on 01 June 2001

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343339%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT) (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343339%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

glycogen storage disease

1 reference

based on heuristic

inferred from title

Gloria Bonuccelli

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343339%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

author name string

M Stroppiano

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343339%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

F Corsolini

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343339%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

M Filocamo

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343339%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

publication date

1 June 2001

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343339%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

American Journal of Medical Genetics Part A

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343339%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

101

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Europe PubMed Central

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7 November 2019

1

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343339%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

55-58

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343339%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1310

21 January 2018

Evidence for a founder effect in Sicilian patients with glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1310

21 January 2018

Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1310

21 January 2018

Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1310

21 January 2018

Characterization of the human lysosomal alpha-glucosidase gene

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1310

21 January 2018

A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1310

21 January 2018

Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1310

21 January 2018

Isolation and Partial Characterization of the Structural Gene for Human Acid Alpha Glucosidase

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1310

21 January 2018

Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1310

21 January 2018

Approach to identification of a point mutation in apo B100 gene by means of a PCR-mediated site-directed mutagenesis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1310

21 January 2018

Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1310

21 January 2018

Identifiers

10.1002/AJMG.1310

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343339%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11343339%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

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