(Q81563855)

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Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene

scientific article published on 02 December 2005

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16323009%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16323009%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

author name string

Simone Schimpf

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16323009%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Simone Schaich

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16323009%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Bernd Wissinger

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16323009%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

publication date

2 December 2005

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16323009%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16323009%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

118

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16323009%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16323009%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

767-771

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16323009%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/16323009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation spectrum and splicing variants in the OPA1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16323009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16323009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16323009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1

1 reference

https://pubmed.ncbi.nlm.nih.gov/16323009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16323009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Hereditary optic atrophy]

1 reference

https://pubmed.ncbi.nlm.nih.gov/16323009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/16323009

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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