(Q46368605)

English

Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect

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scholarly article

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15759101

Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect (English)

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15759101

author name string

Y T Bliksrud

1

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15759101

E Brodtkorb

2

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15759101

P A Andresen

3

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15759101

I E T van den Berg

4

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15759101

E A Kvittingen

5

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15759101

publication date

10 March 2005

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15759101

Journal of Molecular Medicine

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15759101

83

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15759101

406-410

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15759101

5

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15759101

https://scigraph.springernature.com/pub.10.1007/s00109-005-0648-2

0 references

In vivo reversion to normal of inherited mutations in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/15759101

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/15759101

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15759101

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Self-induced correction of the genetic defect in tyrosinemia type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/15759101

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15759101

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of canonical and non-canonical splice sites in mammalian genomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15759101

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15759101

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15759101

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial restoration of degraded DNA from archival paraffin-embedded tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/15759101

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00109-005-0648-2

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15759101

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15759101

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