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Deleterious AGXT Missense Variant Associated with Type 1 Primary Hyperoxaluria (PH1) in Zwartbles Sheep

Severe oxalate nephropathy has been previously reported in sheep and is mostly associated with excessive oxalate in the diet. However, a rare native Dutch breed (Zwartbles) seems to be predisposed to an inherited juvenile form of primary hyperoxaluria and no causative genetic variant has been descri...

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Detalles Bibliográficos
Autores principales: Letko, Anna, Dijkman, Reinie, Strugnell, Ben, Häfliger, Irene M., Paris, Julia M., Henderson, Katrina, Geraghty, Tim, Orr, Hannah, Scholes, Sandra, Drögemüller, Cord
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7600965/
https://www.ncbi.nlm.nih.gov/pubmed/33003365
http://dx.doi.org/10.3390/genes11101147

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