Platelet fibrinogen: subcellular localization by means of immunofluorescent studies in normals and in congenital afibrinogenemia. [PDF]
, 1979 We have studied the site of fibrinogen localization in normal platelets and in the platelets of a patient with congenital afibrinogenemia (CA). The methods employed were: direct immunofluorescence technique (DIT) and indirect immunofluorescence technique
CASONATO, SANDRA +3 more
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Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells [PDF]
, 2004 Congenital afibrinogenemia, the most severe form of fibrinogen deficiency, is characterized by the complete absence of fibrinogen. The disease is caused by mutations in 1 of the 3 fibrinogen genes FGG, FGA, and FGB, clustered on the long arm of human ...
David, Armelle +7 more
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BMC Emergency Medicine, 2012 Background Rupture of the spleen in the absence of trauma or previously diagnosed disease is largely ignored in the emergency literature and is often not documented as such in journals from other fields.
Aubrey-Bassler F, Sowers Nicholas
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Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4+1 G→T [PDF]
, 2001 Our recent studies on the molecular basis of the autosomal recessive disorder congenital afibrinogenemia showed that the most common mutation is a donor splice mutation in FGA intron 4, IVS4 + 1 G-->T, accounting for approximately half of disease alleles.
Attanasio, Catia +9 more
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Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family [PDF]
, 2003 Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by the complete absence of detectable fibrinogen. We previously identified the first causative mutations for this disease, homozygous deletions of approximately 11 kb of the ...
Abu-Libdeh, Bassam +4 more
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Bilateral leukocoria in infant with afibrinogenemia
Clinical Ophthalmology, 2008 M Necati Demir1, Mehmet Akif Acar1, Yusuf Ziya Aral2, Nurten Ünlü11Ankara Education and Research Hospital, Department of Ophthalmology, Ankara, Turkey; 2Aydin Menderes University, Faculty of Medicine, Department of Pediatric Hematology,
M Necati Demir +3 more
doaj
Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia [PDF]
, 2000 Congenital afibrinogenemia is a rare, autosomal, recessive disorder characterized by the complete absence of detectable fibrinogen. We previously identified the first causative mutations in a nonconsanguineous Swiss family; the 4 affected persons have ...
Bridel, C. +14 more
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Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations [PDF]
, 2007 Fibrinogen is synthesized in hepatocytes in the form of a hexamer composed of two sets of three polypeptides (Aalpha, Bbeta, and gamma). Each polypeptide is encoded by a distinct gene, FGA, FGB, and FGG, all three clustered in a region of 50 kb on 4q31 ...
De Moerloose, Philippe +3 more
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Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients [PDF]
, 2010 Congenital afibrinogenemia is a rare coagulation disorder attributed to over forty mutations found either in homozygosity or in compound heterozygosity, the majority localized in FGA encoding the fibrinogen Aalpha-chain.
De Moerloose, Philippe +3 more
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