(Q50597437)

English

Hypodysfibrinogenemia causing mild bleeding and thrombotic complications in a compound heterozygote of AalphaIVS4+1G>T mutation and Aalpha4841delC truncation (Aalpha(Perth)).

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

16 March 2018

http://europepmc.org/abstract/PMC/2965352

Hypodysfibrinogenemia causing mild bleeding and thrombotic complications in a compound heterozygote of AalphaIVS4+1G>T mutation and Aalpha4841delC truncation (Aalpha(Perth)). (English)

1 reference

Europe PubMed Central

PMC publication ID

16 March 2018

http://europepmc.org/abstract/PMC/2965352

0 references

author name string

Asier Jayo

1

1 reference

Europe PubMed Central

PMC publication ID

16 March 2018

http://europepmc.org/abstract/PMC/2965352

Erin Arnold

2

1 reference

Europe PubMed Central

PMC publication ID

16 March 2018

http://europepmc.org/abstract/PMC/2965352

Consuelo González-Manchón

3

1 reference

Europe PubMed Central

PMC publication ID

16 March 2018

http://europepmc.org/abstract/PMC/2965352

David Green

4

1 reference

Europe PubMed Central

PMC publication ID

16 March 2018

http://europepmc.org/abstract/PMC/2965352

Susan T Lord

5

1 reference

Europe PubMed Central

PMC publication ID

16 March 2018

http://europepmc.org/abstract/PMC/2965352

publication date

1 April 2009

1 reference

Europe PubMed Central

PMC publication ID

16 March 2018

http://europepmc.org/abstract/PMC/2965352

Thrombosis and Haemostasis

1 reference

Europe PubMed Central

PMC publication ID

16 March 2018

http://europepmc.org/abstract/PMC/2965352

101

1 reference

Europe PubMed Central

PMC publication ID

16 March 2018

http://europepmc.org/abstract/PMC/2965352

4

1 reference

Europe PubMed Central

PMC publication ID

16 March 2018

http://europepmc.org/abstract/PMC/2965352

770-772

1 reference

Europe PubMed Central

PMC publication ID

16 March 2018

http://europepmc.org/abstract/PMC/2965352

The association of alpha-fibrinogen Thr312Ala polymorphism and venous thromboembolism in the LITE study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965352

22 May 2018

The molecular basis of quantitative fibrinogen disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965352

22 May 2018

Fibrinogen and fibrin structure and functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965352

22 May 2018

Fibrinogen Marburg: a homozygous case of dysfibrinogenemia, lacking amino acids A alpha 461-610 (Lys 461 AAA-->stop TAA)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965352

22 May 2018

Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen AalphaIVS4 + 1G>T mutation and an AalphaGln328 truncation (fibrinogen Keokuk).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965352

14 August 2018

Novel Aalpha chain truncation (fibrinogen Perth) resulting in low expression and impaired fibrinogen polymerization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965352

14 August 2018

Functional analysis of the fibrinogen Aalpha Thr312Ala polymorphism: effects on fibrin structure and function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2965352

14 August 2018

Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 Gright-arrowT

1 reference

https://pubmed.ncbi.nlm.nih.gov/19350124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysfibrinogenemia and thrombosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19350124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fibrinogen Lincoln: a new truncated alpha chain variant with delayed clotting

1 reference

https://pubmed.ncbi.nlm.nih.gov/19350124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fibrinogen Otago: a major alpha chain truncation associated with severe hypofibrinogenaemia and recurrent miscarriage

1 reference

https://pubmed.ncbi.nlm.nih.gov/19350124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysfibrinogenemia (fibrinogen Wilmington) due to a novel Aalpha chain truncation causing decreased plasma expression and impaired fibrin polymerisation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19350124

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 March 2018

http://europepmc.org/abstract/PMC/2965352

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 March 2018

http://europepmc.org/abstract/PMC/2965352

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