Article
Gamma371 Thr-->Ile substitution in the fibrinogen gammaD domain causes hypofibrinogenaemia.
Biochimica et biophysica acta - 17 Dec 2001
Brennan S O, Wyatt J M, Fellowes A P, Dlott J S, Triplett D A, George P M
Abstract excerpt
Six members of a family with hypofibrinogenaemia had fibrinogen concentrations ranging from 0.5 to 1.1 mg/ml and, after sequencing the entire coding region and the intron exon boundaries of all three fibrinogen genes, a single heterozygous ACT-->ATT mutation was identified in the gamma gene. This novel mutation was not detected in normal family members or unrelated controls. The gamma371 Thr-->Ile substitution...
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