Here we report the characterization of a 403 bp duplication of the FGG exon 8-intron 8 junction accounting for congenital afibrinogenemia in a large consanguineous family from Turkey.

Sequencing of fibrinogen genes in the patient and his mother identified the heterozygous missense mutation c.7687A>G in exon 8 of the FGG gene (p.Asn371Ser). Results of this …

Congenital fibrinogen disorders are caused by genetic variants occurring within all three fibrinogen genes. However, each gene (FGA, FGB, FGG) differently shows specific variants. Indeed, …

2004年12月1日 · In this study, we report the identification of a novel nonsense mutation (Arg134Xaa) in the FGG gene responsible for congenital afibrinogenemia in 10 patients from a …

2019年5月1日 · More than 300 DNA mutations in fibrinogen gamma (FGG), fibrinogen alpha (FGA), and fibrinogen beta (FGB) genes have been found to be associated with …

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 …

2015年3月28日 · Molecular abnormalities, which are frequently heterozygous missense mutations localized in exon 2 of FGA and exon 8 of FGG, lead to defects in one or more phases of …

Direct PCR sequencing of the present patient demonstrated a heterozygous mutation of TGT (a) to TCT (b) in codon 326 of FGG. from publication: Hypodysfibrinogenemia with a …

2007年9月11日 · Here, we report the identification and the molecular characterization of a novel deep-intronic mutation in the FGG intron six that affects splicing by promoting the insertion in …

2021年7月1日 · Here we report the characterization of a 403 bp duplication of the FGG exon 8-intron 8 junction accounting for congenital afibrinogenemia in a large consanguineous family …