Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlations

BACKGROUND: Congenital fibrinogen disorders are caused by variants occurring within the fibrinogen gene cluster. We describe ten subjects with disease-causative variants, adding information on such disorders. MATERIALS AND METHODS: Ten subjects were referred to our Centre because of likely hypo/dysf...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Blood Transfus
Hauptverfasser: Chinni, Elena, Tiscia, Giovanni, Favuzzi, Giovanni, Cappucci, Filomena, Malcangi, Giuseppe, Bagna, Rossana, Izzi, Claudia, Rizzi, Domenica, De Stefano, Valerio, Grandone, Elvira
Format: Artigo
Sprache:Inglês
Veröffentlicht: Edizioni SIMTI - SIMTI Servizi Srl 2019
Schlagworte:
Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6596374/
https://ncbi.nlm.nih.gov/pubmed/30418131
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2450/2018.0123-18
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge