Article
Molecular heterogeneity for bovine maple syrup urine disease.
Animal genetics - 1 Oct 1994
Healy P J, Dennis J A
Abstract excerpt
In Poll Herefords, it is known that maple syrup urine disease results from a nonsense mutation in codon -6 of the gene for the E1 alpha subunit of branched-chain alpha-keto acid dehydrogenase. The disease also occurs in Poll Shorthorns, but its molecular basis in this breed has not yet been determined. Allele-specific hybridization and allele-specific amplification, both based on the Poll Hereford mutation,...
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