A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals

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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Pubblicato in:PLoS Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2020
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7544121/
https://ncbi.nlm.nih.gov/pubmed/32986719
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1009028
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