Article
The Holstein Friesian Lethal Haplotype 5 (HH5) Results from a Complete Deletion of TBF1M and Cholesterol Deficiency (CDH) from an ERV-(LTR) Insertion into the Coding Region of APOB.
PloS one - 1 Jan 2016
Schütz Ekkehard, Wehrhahn Christin, Wanjek Marius, Bortfeld Ralf, Wemheuer Wilhelm E, Beck Julia, Brenig Bertram
Abstract excerpt
BACKGROUND: With the availability of massive SNP data for several economically important cattle breeds, haplotype tests have been performed to identify unknown recessive disorders. A number of so-called lethal haplotypes, have been uncovered in Holstein Friesian cattle and, for at least seven of these, the causative mutations have been identified in candidate genes. However, several lethal haplotypes still remain...
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