Characterization of a novel large deletion caused by double-stranded breaks in 6-bp microhomologous sequences of intron 11 and 12 of the F13A1 gene (Q38562231)

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scientific article published on 11 February 2016

Language	Label	Description	Also known as
English	Characterization of a novel large deletion caused by double-stranded breaks in 6-bp microhomologous sequences of intron 11 and 12 of the F13A1 gene	scientific article published on 11 February 2016

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

4 September 2017

Characterization of a novel large deletion caused by double-stranded breaks in 6-bp microhomologous sequences of intron 11 and 12 of the F13A1 gene (English)

1 reference

Europe PubMed Central

PMC publication ID

4 September 2017

author name string

Anne Thomas

1

1 reference

Europe PubMed Central

PMC publication ID

4 September 2017

Vytautas Ivaškevičius

2

1 reference

Europe PubMed Central

PMC publication ID

4 September 2017

Christophe Zawadzki

3

1 reference

Europe PubMed Central

PMC publication ID

4 September 2017

Jenny Goudemand

4

1 reference

Europe PubMed Central

PMC publication ID

4 September 2017

Arijit Biswas

5

1 reference

Europe PubMed Central

PMC publication ID

4 September 2017

Johannes Oldenburg

6

1 reference

Europe PubMed Central

PMC publication ID

4 September 2017

publication date

11 February 2016

1 reference

Europe PubMed Central

PMC publication ID

4 September 2017

Human Genome Variation

1 reference

Europe PubMed Central

PMC publication ID

4 September 2017

3

1 reference

Europe PubMed Central

PMC publication ID

4 September 2017

15059

1 reference

Europe PubMed Central

PMC publication ID

4 September 2017

copyright license

Creative Commons Attribution 4.0 International

11 February 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Roles of chromatin remodellers in DNA double strand break repair

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Non-homologous end joining: emerging themes and unanswered questions

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6 September 2017

Coagulation factor XIII deficiency. Diagnosis, prevalence and management of inherited and acquired forms

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The role of microhomology in genomic structural variation

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6 September 2017

Factor XIII: congenital deficiency factor XIII, acquired deficiency, factor XIII A-subunit, and factor XIII B-subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760118

6 September 2017

The complexity of DNA double strand breaks is a critical factor enhancing end-resection

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6 September 2017

New developments in the management of congenital Factor XIII deficiency

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6 September 2017

Alternative end-joining mechanisms: a historical perspective

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6 September 2017

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

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Substrates of Factor XIII-A: roles in thrombosis and wound healing

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Hemorrhagic acquired factor XIII (13) deficiency and acquired hemorrhaphilia 13 revisited

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6 September 2017

An update of the mutation profile of Factor 13 A and B genes.

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6 September 2017

Factor XIII: novel structural and functional aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760118

6 September 2017

Genomic rearrangements in inherited disease and cancer

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760118

6 September 2017

A microhomology-mediated break-induced replication model for the origin of human copy number variation

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6 September 2017

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760118

6 September 2017

The mechanism of human nonhomologous DNA end joining

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760118

6 September 2017

International registry on factor XIII deficiency: a basis formed mostly on European data

1 reference

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Primer3Plus, an enhanced web interface to Primer3

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6 September 2017

Characterization and prediction of alternative splice sites

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6 September 2017

Three-dimensional structure of a transglutaminase: human blood coagulation factor XIII

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6 September 2017

Human factor XIII: fibrin-stabilizing factor.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760118

6 September 2017

Localization of the coagulation factor XIII A subunit gene (F13A) to chromosome bands 6p24----p25

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760118

6 September 2017

Localization of the coagulation factor XIII B subunit gene (F13B) to chromosome bands 1q31-32.1 and restriction fragment length polymorphism at the locus

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760118

6 September 2017

Nucleotide sequence of the gene for the b subunit of human factor XIII.

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6 September 2017

Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4760118

6 September 2017

Enhancements and modifications of primer design program Primer3.

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14 September 2017

Human Factor XIII from plasma and platelets. Molecular weights, subunit structures, proteolytic activation, and cross-linking of fibrinogen and fibrin.

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23 June 2018

Characterisation of large F9 deletions in seven unrelated patients with severe haemophilia B.

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Characterization of large deletions in the F8 gene using multiple competitive amplification and the genome walking technique

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Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification

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[Characterization of a large deletion that leads to congenital factor XIII deficiency].

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Phenotype-genotype correlation in eight Polish patients with inherited Factor XIII deficiency: identification of three novel mutations.

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31 August 2018

Delayed umbilical bleeding--a presenting feature for factor XIII deficiency: clinical features, genetics, and management.

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Primary Structure of Human Coagulation Factor XIII

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12 December 2020

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Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/27081562

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Novel deletion and insertion mutations cause splicing defects, leading to severe reduction in mRNA levels of the A subunit in severe factor XIII deficiency

1 reference

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12 December 2020

based on heuristic

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A backup DNA repair pathway moves to the forefront

1 reference

https://pubmed.ncbi.nlm.nih.gov/27081562

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/HGV.2015.59

1 reference

Europe PubMed Central

PMC publication ID

4 September 2017

Dimensions Publication ID

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

4 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

4 September 2017

ResearchGate publication ID

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