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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Fellowes, A.P. et al.

Fellowes, Brennan, Holme, Stormorken, Brosstad, George,

Homozygous truncation of the fibrinogen A alpha chain within the coiled coil causes congenital afibrinogenemia.

The molecular basis of a novel congenital afibrinogenemia has been determined. The proposita, the only affected member in a consanguineous Norwegian family, suffers from a moderate to severe bleeding disorder due to the total absence of any detectable fibrinogen. Dot blots of solubilized platelets revealed a small amount of gamma chain but no A alpha or B beta chains, whereas no chains were detected in plasma dot blots. DNA sequencing of the A alpha chain gene revealed a homozygous C-->T transversion 557 nucleotides from the transcription initiation site. This nucleotide change predicts the nonsense mutation A alpha 149 Arg (CGA)-->stop ( TGA). Early truncation of the A alpha chain appears to result in defective assembly or secretion of fibrinogen, probably due to the removal of the C-terminal disulfide ring residues that are critically required for the formation of a stable 3-chained half molecule. (Blood. 2000;96:773-775)[1]

References

Homozygous truncation of the fibrinogen A alpha chain within the coiled coil causes congenital afibrinogenemia. Fellowes, A.P., Brennan, S.O., Holme, R., Stormorken, H., Brosstad, F.R., George, P.M. Blood (2000) [Pubmed]

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