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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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2020
Assuntos:
Research Article
Acesso em linha: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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