Identification of two novel missense mutations causing severe factor XIII deficiency.

Handrkova, H; Borhany, M; Schroeder, V; Fatima, N; Hussain, A; Shamsi, T; Kohler, H P

Handrkova, H; Borhany, M; Schroeder, V; Fatima, N; Hussain, A; Shamsi, T; Kohler, H P.

Afiliación

Handrkova H; University Clinic of Haematology, Haemostasis Research Laboratory, University Hospital of Bern, Bern, Switzerland.
Borhany M; Department of Clinical Research, University of Bern, Bern, Switzerland.
Schroeder V; Department of Haematology, Haemostasis & Thrombosis, National Institute of Blood Disease and Bone Marrow Transplantation (NIBD), Karachi, Pakistan.
Fatima N; University Clinic of Haematology, Haemostasis Research Laboratory, University Hospital of Bern, Bern, Switzerland.
Hussain A; Department of Clinical Research, University of Bern, Bern, Switzerland.
Shamsi T; Department of Haematology, Haemostasis & Thrombosis, National Institute of Blood Disease and Bone Marrow Transplantation (NIBD), Karachi, Pakistan.
Kohler HP; Department of Haematology, Haemostasis & Thrombosis, National Institute of Blood Disease and Bone Marrow Transplantation (NIBD), Karachi, Pakistan.

Haemophilia ; 21(3): e253-e256, 2015 May.

Article en En | MEDLINE | ID: mdl-25832324

Asunto(s)

Deficiencia del Factor XIII/diagnóstico; Deficiencia del Factor XIII/genética; Factor XIII/genética; Mutación Missense; Adolescente; Factor XIII/química; Deficiencia del Factor XIII/tratamiento farmacológico; Femenino; Homocigoto; Humanos; Masculino; Adulto Joven

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Factor XIII / Mutación Missense / Deficiencia del Factor XIII Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Haemophilia Asunto de la revista: HEMATOLOGIA Año: 2015 Tipo del documento: Article País de afiliación: Suiza

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