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A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals.
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.
Afiliación
  • Rivas VN; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, United States of America.
  • Magdesian KG; Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California-Davis, Davis, California, United States of America.
  • Fagan S; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale School of Medicine, Yale University, New Haven, Connecticut, United States of America.
  • Slovis NM; Hagyard Equine Medical Hospital, Lexington, Kentucky, United States of America.
  • Luethy D; Department of Clinical Studies-New Bolton Center, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
  • Javsicas LH; Rhinebeck Equine L.L.P., Rhinebeck, New York, United States of America.
  • Caserto BG; VetPath Services, Stone Ridge, NY, United States of America.
  • Miller AD; Department of Biomedical Sciences, Section of Anatomic Pathology, College of Veterinary Medicine, Cornell University, Ithaca, New York, United States of America.
  • Dahlgren AR; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, United States of America.
  • Peterson J; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, United States of America.
  • Hales EN; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, United States of America.
  • Peng S; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, United States of America.
  • Watson KD; Department of Anatomic Pathology, Veterinary Medical Teaching Hospital, University of California-Davis, Davis, California, United States of America.
  • Khokha MK; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale School of Medicine, Yale University, New Haven, Connecticut, United States of America.
  • Finno CJ; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California, United States of America.
PLoS Genet ; 16(9): e1009028, 2020 09.
Article en En | MEDLINE | ID: mdl-32986719
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Codón sin Sentido / Factores de Intercambio de Guanina Nucleótido ras / Enfermedades de los Caballos / Hipocalcemia / Hipoparatiroidismo Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Animals Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Codón sin Sentido / Factores de Intercambio de Guanina Nucleótido ras / Enfermedades de los Caballos / Hipocalcemia / Hipoparatiroidismo Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Animals Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos