Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis.

Saes, Joline L; Simons, Annet; de Munnik, Sonja A; Nijziel, Marten R; Blijlevens, Nicole M A; Jongmans, Marjolijn C; van der Reijden, Bert A; Smit, Yolba; Brons, Paul P; van Heerde, Waander L; Schols, Saskia E M

Saes, Joline L; Simons, Annet; de Munnik, Sonja A; Nijziel, Marten R; Blijlevens, Nicole M A; Jongmans, Marjolijn C; van der Reijden, Bert A; Smit, Yolba; Brons, Paul P; van Heerde, Waander L; Schols, Saskia E M.

Afiliación

Saes JL; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands.
Simons A; Hemophilia Treatment Center, Nijmegen-Eindhoven-Maastricht, Nijmegen, The Netherlands.
de Munnik SA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Nijziel MR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Blijlevens NMA; Department of Hematology, Catharina Hospital, Eindhoven, The Netherlands.
Jongmans MC; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands.
van der Reijden BA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Smit Y; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Brons PP; Princess Maxima Center for Pediatric Oncology, Utrecht, The Netherlands.
van Heerde WL; Department of Laboratory Medicine, Laboratory of Haematology, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
Schols SEM; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands.

Haemophilia ; 25(1): 127-135, 2019 Jan.

Article en En | MEDLINE | ID: mdl-30431218

Asunto(s)

Secuenciación del Exoma/métodos; Trastornos Hemorrágicos/diagnóstico; Adulto; Endorribonucleasas/genética; Factor VII/genética; Factor VIII/genética; Femenino; Predisposición Genética a la Enfermedad; Genotipo; Trastornos Hemorrágicos/genética; Humanos; Masculino; Persona de Mediana Edad; Proteínas Motoras Moleculares/genética; Cadenas Pesadas de Miosina/genética; Factor de von Willebrand/genética

Palabras clave

bleeding disorders; genetic analysis; haemostasis diagnostics; personalized treatment; platelet disorders; whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Secuenciación del Exoma / Trastornos Hemorrágicos Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Haemophilia Asunto de la revista: HEMATOLOGIA Año: 2019 Tipo del documento: Article País de afiliación: Países Bajos

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