A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals
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DOI: 10.1371/journal.pgen.1009028
Abstract: Idiopathic hypocalcemia in Thoroughbred (TB) foals causes tetany and seizures and is invariably fatal. Based upon the similarity of this disease with human familial hypoparathyroidism and occurrence only in the TB breed, we conducted a… read more here.
Keywords: hypoparathyroidism; rapgef5; affected foals; thoroughbred foals ... See more keywords