The c.1243T>C mutation in the <i>PROC</i> gene is linked with inherited protein C deficiency and severe purpura fulminans.

Nourbakhsh, Seyed Mohammad Kazem; Bahadoram, Mohammad; Rashidi-Nezhad, Ali; Habibi, Laleh; Mansouri, Fatemeh; Akade, Esma'il

The c.1243T>C mutation in the PROC gene is linked with inherited protein C deficiency and severe purpura fulminans.

Nourbakhsh, Seyed Mohammad Kazem; Bahadoram, Mohammad; Rashidi-Nezhad, Ali; Habibi, Laleh; Mansouri, Fatemeh; Akade, Esma'il.

Afiliación

Nourbakhsh SMK; Department of Pediatric Hematology and Oncology, School of Medicine Tehran University of Medical Sciences Tehran Iran.
Bahadoram M; Thalassemia and Hemoglobinopathy Research Center, Health Research Institute Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran.
Rashidi-Nezhad A; Maternal, Fetal, and Neonatal Research Center, Family Health Research Institute Tehran University of Medical Sciences Tehran Iran.
Habibi L; Ronash Medical Genetics Laboratory Tehran Iran.
Mansouri F; Department of Genetics and Immunology, Faculty of Medicine Urmia University of Medical Sciences Urmia Iran.
Akade E; Department of Medical Virology, School of Medicine Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran.

Clin Case Rep ; 11(12): e8280, 2023 Dec.

Article en En | MEDLINE | ID: mdl-38046799

Palabras clave

PROC gene; nextgeneration sequencing; protein C deficiency; purpura fulminans; venous thromboembolism

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Contexto en salud: 2_ODS3 / 6_ODS3_enfermedades_notrasmisibles Problema de salud: 2_muertes_prevenibles / 6_other_blood_disorders / 6_venous_thromboembolic_disease Idioma: En Revista: Clin Case Rep Año: 2023 Tipo del documento: Article

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