Title: Research Communications of the 24th ECVIM-CA Congress Document date: 2015_1_10
ID: r59usk02_140
Snippet: In conclusion, these three domestic shorthair cats had the same HMBS mutation causing an autosomal dominantly inherited AIP. Cats with discolored teeth and normal or mild hemolysis may have either acute intermittent porphyria or congenital erythroid porphyria. Interestingly, seven disease-causing mutations have now been found by us in the HMBS gene -more than in any other gene in cats. The biochemical and molecular characterization facilitates cl.....
Document: In conclusion, these three domestic shorthair cats had the same HMBS mutation causing an autosomal dominantly inherited AIP. Cats with discolored teeth and normal or mild hemolysis may have either acute intermittent porphyria or congenital erythroid porphyria. Interestingly, seven disease-causing mutations have now been found by us in the HMBS gene -more than in any other gene in cats. The biochemical and molecular characterization facilitates clinical screening of affected cats to reach a specific diagnosis.
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