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...

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Detalhes bibliográficos
Publicado no:Blood Transfus
Main Authors: Chinni, Elena, Tiscia, Giovanni, Favuzzi, Giovanni, Cappucci, Filomena, Malcangi, Giuseppe, Bagna, Rossana, Izzi, Claudia, Rizzi, Domenica, De Stefano, Valerio, Grandone, Elvira
Formato: Artigo
Idioma:Inglês
Publicado em: Edizioni SIMTI - SIMTI Servizi Srl 2019
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Original Article
Acesso em linha: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
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