A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family

Congenital afibrinogenemia is the most severe congenital fibrinogen disorder, characterized by undetectable fibrinogen in circulation. Causative mutations can be divided into two main classes: null mutations with no protein production at all and missense mutations producing abnormal protein chains t...

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Detalles Bibliográficos
Autores principales: Guipponi, Michel, Masclaux, Frédéric, Sloan-Béna, Frédérique, Di Sanza, Corinne, Özbek, Namik, Peyvandi, Flora, Menegatti, Marzia, Casini, Alessandro, Malbora, Baris, Neerman-Arbez, Marguerite
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Fondazione Ferrata Storti 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9052919/
https://www.ncbi.nlm.nih.gov/pubmed/34196169
http://dx.doi.org/10.3324/haematol.2021.278945

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