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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream
Blood Coagulation and Fibrinolysis, Volume 20, No. 5, Year 2009
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Description
Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by complete absence of detectable fibrinogen and bleeding symptoms. Many causative mutations have been described to date in all three fibrinogen genes, most of them in the fibrinogen Aalpha-chain gene (FGA), but also in the fibrinogen Bbeta-chain gene (FGB) and the fibrinogen gamma-chain gene (FGG). We report here a novel frameshift mutation (p.Glu262AspfsX158) in FGA exon 5 predicted to lead to a truncated polypeptide with an exceptionally long stretch of abnormal residues identified in homozygosity in a patient with congenital afibrinogenemia. Interestingly, five other frameshift mutations predicted to truncate at the same stop codon have already been described in FGA exon 5. © 2009 Wolters Kluwer Health | Lippincott Williams & Wilkins.
Authors & Co-Authors
Robert-Ebadi, Helia
Switzerland, Geneva
University Hospital
de Moerloose, Philippe
Switzerland, Geneva
University Hospital
Switzerland, Geneva
Hôpitaux Universitaires de Genève
El-Khorassani, Mohammed
Morocco, Agdal Rabat
University Hospital
Khattab, Mohammed El
Morocco, Agdal Rabat
University Hospital
Neerman-Arbez, Marguerite
Switzerland, Geneva
University Hospital
Switzerland, Geneva
Université de Genève Faculté de Médecine
Statistics
Citations: 7
Authors: 5
Affiliations: 4
Identifiers
Doi:
10.1097/MBC.0b013e328329f2a0
ISSN:
09575235
Research Areas
Cancer
Genetics And Genomics
Health System And Policy