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

Deleterious <i>AGXT</i> 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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Bibliographic Details
Main Authors: Anna Letko, Reinie Dijkman, Ben Strugnell, Irene M. Häfliger, Julia M. Paris, Katrina Henderson, Tim Geraghty, Hannah Orr, Sandra Scholes, Cord Drögemüller
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:Genes
Subjects:
<i>Ovis aries</i>
oxalate nephropathy
whole-genome sequencing
metabolic disease
precision medicine
genetic test
Online Access:https://www.mdpi.com/2073-4425/11/10/1147

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