Article
A C-terminal amino acid substitution in the gamma-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenaemia.
Thrombosis and haemostasis - 1 Aug 2010
Fujihara Noriko, Haneishi Ayumi, Yamauchi Kazuyoshi, Terasawa Fumiko, Ito Toshiro, Ishida Fumihiro, Okumura Nobuo
Abstract excerpt
We found a novel hypofibrinogenemia designated as Matsumoto VII (M-VII), which is caused by a heterozygous nucleotide deletion at position g.7651 in FGG and a subsequent frameshift mutation in codon 387 of the gamma-chain. This frameshift results in 25 amino acid substitutions, late termination of translation with elongation by 15 amino acids, and the introduction of a canonical glycosylation site. Western blot...
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