A novel frameshift mutation in the FGA gene (c.196 delT) leading to congenital afibrinogenemia

Aydin Köker, Sultan; Köker, Alper; Neerman Arbez, Marguerite; Ö Tunçer, Gökçen; Akbas, Yilmaz; T Kara, Tugce; Coban, Yasemin

doi:10.1097/MPH.0000000000001658

Scientific article

Case report

English

A novel frameshift mutation in the FGA gene (c.196 delT) leading to congenital afibrinogenemia

ContributorsAydin Köker, Sultan; Köker, Alper; Neerman Arbez, Marguerite

; Ö Tunçer, Gökçen; Akbas, Yilmaz; T Kara, Tugce; Coban, Yasemin

Published inJournal of Pediatric Hematology / Oncology, vol. 42, no. 2, no. e98-e99

Publication date2020

Abstract

Congenital afibrinogenemia is characterized by the absence of fibrinogen. Congenital fibrinogen disorders result from several mutations in FGA, FGB, or FGG. Their epidemiology is not well known.

Affiliation entities

Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement

Research groups

Recherche translationnelle : anomalies de l'hémostase et thromboses (504)

Funding

Swiss National Science Foundation - Molecular mechanisms and clinical consequences of variable fibrinogen levels [172864]

Citation (ISO format)

AYDIN KÖKER, Sultan et al. A novel frameshift mutation in the FGA gene (c.196 delT) leading to congenital afibrinogenemia. In: Journal of Pediatric Hematology / Oncology, 2020, vol. 42, n° 2. doi: 10.1097/MPH.0000000000001658

Article (Published version)

Identifiers

PID : unige:139876
DOI : 10.1097/MPH.0000000000001658
PMID : 31725541

Journal ISSN1077-4114

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A novel frameshift mutation in the FGA gene (c.196 delT) leading to congenital afibrinogenemia

Congenital afibrinogenemia is characterized by the absence of fibrinogen. Congenital fibrinogen disorders result from several mutations in FGA, FGB, or FGG. Their epidemiology is not well known.

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