Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect

Weronska, Anna; de-la-Morena-Barrio, Belen; Goldman-Mazur, Sarah; de-la-Morena-Barrio, Maria-Eugenia; Padilla, José; Miñano, Antonia; Garrido-Rodriguez, Pedro; Treli?ski, Jacek; Potaczek, Daniel-Piotr; Szczepanek, Anita; Undas, Anetta; Corral, Javier; Wypasek, Ewa

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dc.contributor.author	Weronska, Anna
dc.contributor.author	de-la-Morena-Barrio, Belen
dc.contributor.author	Goldman-Mazur, Sarah
dc.contributor.author	de-la-Morena-Barrio, Maria-Eugenia
dc.contributor.author	Padilla, José
dc.contributor.author	Miñano, Antonia
dc.contributor.author	Garrido-Rodriguez, Pedro
dc.contributor.author	Treli?ski, Jacek
dc.contributor.author	Potaczek, Daniel-Piotr
dc.contributor.author	Szczepanek, Anita
dc.contributor.author	Undas, Anetta
dc.contributor.author	Corral, Javier
dc.contributor.author	Wypasek, Ewa
dc.date.accessioned	2025-05-06T10:36:45Z
dc.date.available	2025-05-06T10:36:45Z
dc.date.issued	2023
dc.identifier.citation	Weronska A, De la Morena-Barrio B, Goldman-Mazur S, De la Morena-Barrio ME, Padilla J, Miñano A, et al. Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect. Haematologica. 1 de octubre de 2023;108(10):2803-7.
dc.identifier.issn	1592-8721
dc.identifier.uri	https://sms.carm.es/ricsmur/handle/123456789/18739
dc.language.iso	eng
dc.publisher	Ferrata Storti Foundation
dc.rights	Atribución-NoComercial-SinDerivadas 4.0 España
dc.rights.uri	https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es	*
dc.subject.mesh	Humans
dc.subject.mesh	Antithrombins
dc.subject.mesh	Founder Effect
dc.subject.mesh	Poland
dc.subject.mesh	Antithrombin III
dc.subject.mesh	Mutation
dc.subject.mesh	Anticoagulants
dc.title	Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect
dc.type	info:eu-repo/semantics/article
dc.identifier.pmid	37021543
dc.relation.publisherversion	https://dx.doi.org/10.3324/haematol.2022.282459
dc.type.version	info:eu-repo/semantics/publishedVersion
dc.identifier.doi	10.3324/haematol.2022.282459
dc.journal.title	Haematologica
dc.identifier.essn	0390-6078