"A Deletion Mutation Causes Hemophilia B in Lhasa Apso Dogs."

According to the authors' abstract of an article published in Blood, "Hemophilia B is a bleeding disorder caused by a deficiency of clotting factor IX (FIX). A colony of FIX deficient Lhasa Apso dogs has been established and the molecular basis of hemophilia B has been determined. The plasma factor IX levels were <1% of normal canine levels in affected dogs. A complex deletion mutation at nucleotides 772-777 was found when hepatocyte cDNA from a hemophilia B dog was sequenced. The sequence was identical to the normal canine sequence except for a deletion including nucleotides 772-776 and a C --> T transition at nucleotide 777, The mutation results in mRNA instability and a...

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