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- W1993588034 abstract "A patient referred for preoperative investigation of prolonged bleeding and easy bruising was found to have increased thrombin and reptilase times; however, the thrombin catalysed release of fibrinopeptides A and B was normal. Analysis of five other family members, spanning three generations, indicated that three had a similar defect and suggested autosomal dominant inheritance. Non-reducing SDS-PAGE of purified fibrinogen from affected individuals showed that the 340 kD form of their fibrinogen ran as a doublet. SSCP (single-stranded conformational polymorphism) analysis of exon 5 of the Aα gene, which encodes the C-terminal half of the chain, confirmed the presence of a mutation. Cycle sequencing of PCR amplified DNA revealed a 13 base pair deletion (nt 4758–4770), resulting in a frameshift at Ala 475, which translates as four new amino acids before terminating at a new stop codon (-476His-Cys-Leu-Ala-Stop). The presence of a circulating truncated Aα chain was confirmed when SDS-PAGE gels were probed with an α chain specific antisera; which showed that the variant Aα chain comigrated with γ chains. The truncation results in a variant Aα chain with a deletion of 131 amino acids (480–610), and four new amino acids at the C-terminal." @default.
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- W1993588034 date "1996-04-01" @default.
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- W1993588034 title "Fibrinogen Lincoln: a new truncated ? chain variant with delayed clotting" @default.
- W1993588034 doi "https://doi.org/10.1046/j.1365-2141.1996.4681007.x" @default.
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