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Lafora Disease (NHLRC1) in the Newfoundland: What the First Confirmed Case Means for This Mid-Popularity Breed

Conclusion: In 2021, veterinary geneticists reported the first confirmed Newfoundland with Lafora disease — a dog whose ...
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Dermatosparaxis Ehlers-Danlos Syndrome (ADAMTS2) in the American Pit Bull Terrier: What the Research Shows About This Rare Skin-Fragility Disorder

Conclusion: A frameshift variant in the ADAMTS2 gene (c.2280117delC) causes severe, sometimes fatal skin fragility — der...
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Globoid Cell Leukodystrophy (Krabbe Disease) in the West Highland White Terrier: The GALC Mutation Westies Share With Cairn Terriers

Conclusion: West Highland White Terriers can carry globoid cell leukodystrophy (GCL, also called Krabbe disease), caused...
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Glycogen Storage Disease IIIa in Curly-Coated Retrievers (AGL): The Second Collapse Gene Your Kennel Club Record Does Not Show

Bottom line: the Curly-Coated Retriever is the one breed in the world in which glycogen storage disease type IIIa (GSD I...
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Mucopolysaccharidosis IIIB in Schipperkes (NAGLU): The Variant Nearly One in Four Carried — and the Screening Program That Cut It Back

Bottom line: Schipperkes carry a breed-specific variant in the NAGLU gene that causes Mucopolysaccharidosis IIIB (MPS II...
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Narcolepsy in Labrador Retrievers (HCRTR2 c.1105+5G>A): The Splice Variant Behind Collapse on Excitement

Bottom line: Labrador Retrievers carry a breed-specific cause of narcolepsy — HCRTR2 c.1105+5G>A, a single base change a...
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JLPP in the Black Russian Terrier (RAB3GAP1): A Recessive Disease You Can Design Out in One Generation

Bottom line: Juvenile Laryngeal Paralysis and Polyneuropathy (JLPP) is an autosomal recessive disease of the Black Russi...
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Merle (M Locus / PMEL) in the Catahoula Leopard Dog: 10.3% of Double Merles Were Deaf, Not Two-Thirds — What the BAER Data Actually Says

Bottom line: the Catahoula Leopard Dog is the breed that the modern merle-deafness numbers were built on, and the number...
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Vitamin B12 Malabsorption (CUBN) in New Zealand Heading Dogs: the Top Finding of Massey’s 249-Dog Genome Survey — and How to Test from the US, UK and NZ

Bottom line: when a Massey University team sequenced the genomes of New Zealand's working dogs and ranked what they foun...
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Hypokalaemia in the Bombay Cat (WNK4): 7% Affected — the Highest Rate of Any Burmese-Derived Breed

Bottom line: Of every Burmese-derived breed that has been surveyed, the Bombay carries the heaviest burden of hypokalaem...