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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7544121/
https://www.ncbi.nlm.nih.gov/pubmed/32986719
http://dx.doi.org/10.1371/journal.pgen.1009028

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7544121/
https://www.ncbi.nlm.nih.gov/pubmed/32986719
http://dx.doi.org/10.1371/journal.pgen.1009028

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