A novel mutation of the familial Mediterranean fever gene in a Greek family related to a non-classical, variably expressed FMF phenotype

Independent occurrence of the novel Arg2

Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes

✍ Bimal D. M. Theophilus; Mohammad S. Enayat; Miyoko Higuchi; Haig H. Kazazian; St 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 58 KB 👁 1 views

Using chemical mismatch analysis or denaturing gradient gel electrophoresis followed by nucleotide sequencing, we have identified the same G6545A mutation leading to an Arg 2163 His substitution in the factor VIII gene of three haemophiliacs from unrelated families. One of the affected individuals h