Title : Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain.

Pub. Date : 1991 Feb 1

PMID : 1851341






1 Functional Relationships(s)
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1 Investigation of the thrombin cleavage sites at amino acids 372 and 1689 of the factor VIII protein by oligonucleotide screening, DNA amplification and direct sequencing, enabled us to identify two missense mutations in 441 unrelated haemophiliacs. Oligonucleotides coagulation factor II, thrombin Homo sapiens