A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5

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 genetic investigation on two affected TB foals. Familial hypopar...

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Veröffentlicht in:	PLoS genetics 2020-09, Vol.16 (9)
Hauptverfasser:	Rivas, Victor N, Magdesian, K. Gary, Fagan, Sophia, Slovis, Nathan M, Luethy, Daniela, Javsicas, Laura H, Caserto, Brian G, Miller, Andrew D, Dahlgren, Anna R, Peterson, Janel, Hales, Erin N, Peng, Sichong, Watson, Katherine D, Khokha, Mustafa K, Finno, Carrie J
Format:	Artikel
Sprache:	eng
Schlagworte:	Diseases Foals Genetic aspects Horse diseases Hypoparathyroidism Risk factors Thoroughbred horses
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