Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function. (Q39181953)

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scientific article published on 3 June 2014

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English	Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function.	scientific article published on 3 June 2014

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19 March 2020

Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function (English)

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19 March 2020

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Vytautas Ivaskevicius

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19 March 2020

Anne Thomas

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Michael Varvenne

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19 March 2020

Brigitte Brand

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Hannelore Rott

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Iris Haussels

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19 March 2020

Heiko Ruehl

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Ute Scholz

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Robert Klamroth

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19 March 2020

Johannes Oldenburg

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Annals of Hematology

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19 March 2020

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1665-1676

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19 March 2020

Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function.

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Classification of rare bleeding disorders (RBDs) based on the association between coagulant factor activity and clinical bleeding severity

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

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Generation and validation of the Condensed MCMDM-1VWD Bleeding Questionnaire for von Willebrand disease

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Measurement of factor XIII activity in plasma

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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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Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor

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Two non-proline cis peptide bonds may be important for factor XIII function

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Structure of active coagulation factor XIII triggered by calcium binding: basis for the design of next-generation anticoagulants

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Increasing the precision of comparative models with YASARA NOVA-a self-parameterizing force field

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TM-align: a protein structure alignment algorithm based on the TM-score

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FATCAT: a web server for flexible structure comparison and structure similarity searching

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MAFFT Multiple Sequence Alignment Software Version 7: Improvements in Performance and Usability

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ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

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Transdab wiki: the interactive transglutaminase substrate database on web 2.0 surface

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A method and server for predicting damaging missense mutations

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MutationTaster evaluates disease-causing potential of sequence alterations

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Functional annotations improve the predictive score of human disease-related mutations in proteins

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The PASTA server for protein aggregation prediction.

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PrDOS: prediction of disordered protein regions from amino acid sequence

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21 January 2018

Homozygous intronic mutation leading to inefficient transcription combined with a novel frameshift mutation in F13A1 gene causes FXIII deficiency

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21 January 2018

The activation peptide cleft exposed by thrombin cleavage of FXIII-A(2) contains a recognition site for the fibrinogen α chain.

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Identification of the calcium binding site and a novel ytterbium site in blood coagulation factor XIII by x-ray crystallography

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21 January 2018

Impaired protein folding, dimer formation, and heterotetramer assembly cause intra- and extracellular instability of a Y283C mutant of the A subunit for coagulation factor XIII.

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Impaired dimer assembly and decreased stability of naturally recurring R260C mutant A subunit for coagulation factor XIII.

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Factor XIII: novel structural and functional aspects

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10.1007/S00277-014-2102-4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24889649%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24889649%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

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