Article
A missense mutation (p.Leu2153His) of the factor VIII gene causes cattle haemophilia A.
Animal genetics - 1 Oct 2009
Khalaj M, Abbasi A R, Shimojo K, Moritomo Y, Yoneda K, Kunieda T
Abstract excerpt
Two cases of hereditary bleeding disorder diagnosed as haemophilia A were recently observed in Japanese Brown cattle. We sequenced the entire coding region of the factor VIII gene of the affected animals to find a causative mutation. A nucleotide substitution of T to A resulting in an amino acid substitution of leucine to histidine (p.Leu2153His) was identified in a highly conserved residue in the C1 domain of...
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