Identification of a novel nonsense mutation leading to congenital factor XIII deficiency.

Li, Bojun; Borhany, Munira; Abid, Madiha; Kohler, Hans P; Schroeder, Verena

Li, Bojun; Borhany, Munira; Abid, Madiha; Kohler, Hans P; Schroeder, Verena.

Afiliação

Li B; Experimental Haemostasis Group, Department for BioMedical Research, University of Bern, Bern, Switzerland.
Borhany M; Department of Haematology, Haemostasis & Thrombosis, National Institute of Blood Disease and Bone Marrow Transplantation (NIBD), Karachi, Pakistan.
Abid M; Department of Haematology, Haemostasis & Thrombosis, National Institute of Blood Disease and Bone Marrow Transplantation (NIBD), Karachi, Pakistan.
Kohler HP; Experimental Haemostasis Group, Department for BioMedical Research, University of Bern, Bern, Switzerland; Department of Medicine, Inselgruppe, Tiefenauspital, Bern, Switzerland.
Schroeder V; Experimental Haemostasis Group, Department for BioMedical Research, University of Bern, Bern, Switzerland. Electronic address: verena.schroeder@dbmr.unibe.ch.

Thromb Res ; 165: 83-85, 2018 05.

Article em En | MEDLINE | ID: mdl-29604433

Assuntos

Códon sem Sentido/genética; Deficiência do Fator XIII/genética; Feminino; Humanos; Masculino; Mutação

Palavras-chave

Congenital factor XIII deficiency; Cys327Stop; F13A gene mutations; Factor XIII; Rare bleedings disorders

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Códon sem Sentido / Deficiência do Fator XIII Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google