Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations.

doi:10.1016/j.thromres.2015.04.025

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Article

Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations.

Thrombosis research - 1 Jul 2015

Castaman Giancarlo, Rimoldi Valeria, Giacomelli Sofia H, Duga Stefano

Abstract excerpt

We report the molecular characterisation of two novel cases of inherited hypofibrinogenemia. After sequencing all coding regions and intron-exon boundaries of the three fibrinogen genes (FGA, FGB, and FGG), two different novel mutations were found, one homozygous and one heterozygous. The first patient, with a mild bleeding history and mild discrepancy between functional and immunological fibrinogen, showed a...

Topics

Afibrinogenemia
Aged, 80 and over
Amino Acid Sequence
Codon, Nonsense
Female
Fibrinogen
Heterozygote
Homozygote
Humans
Male
Molecular Sequence Data
Mutation
Point Mutation
Protein Structure, Tertiary
Sequence Deletion
Young Adult

Source

Open in PubMed

Identifiers

PMID: 25981141
DOI: 10.1016/j.thromres.2015.04.025

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