A Novel Nonsense Mutation in
Bβ-chain gene
bleeding phenotype
functional analysis
hypofibrinogenemia
novel nonsense mutation
protein modelling
Journal
Biomedicines
ISSN: 2227-9059
Titre abrégé: Biomedicines
Pays: Switzerland
ID NLM: 101691304
Informations de publication
Date de publication:
13 Dec 2020
13 Dec 2020
Historique:
received:
27
10
2020
revised:
03
12
2020
accepted:
10
12
2020
entrez:
16
12
2020
pubmed:
17
12
2020
medline:
17
12
2020
Statut:
epublish
Résumé
Congenital hypofibrinogenemia is a rare bleeding disorder characterized by a proportional decrease of functional and antigenic fibrinogen levels. Hypofibrinogenemia can be considered the phenotypic expression of heterozygous loss of function mutations occurring within one of the three fibrinogen genes (
Identifiants
pubmed: 33322159
pii: biomedicines8120605
doi: 10.3390/biomedicines8120605
pmc: PMC7763967
pii:
doi:
Types de publication
Journal Article
Langues
eng
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