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Fellfarbverdünnung und neurologische Defekte (CDN) sind eine Gruppe seltener genetischer Erkrankungen
Reduction of genetic risks
Neonatal cerebellar cortical degeneration is an autosomal recessive disorder
Dogs with two copies of HPS3 mutation have a slightly darker coat color and lighter eyes than the TYRP1 related brown dogs
die Menschen und Tiere
Pyruvatkinasedefizienz (PK) - West Highland White Terrier Diversität Fellfarbverdünnung und neurologische Defekte (CDN)Canine pyruvate kinase deficiency (PK deficiency) is an autosomal recessive disorder of cardiovascular system. Pyruvate kinase (PK) is essential for glycolysis in erythrocytes, which deliver oxygen to tissues. PK deficiency results in erythrocytes with decreased energy, in such ATP needed for energy cannot be synthesized, and cellular death occurs. The symptoms occur between 4 months and 1 year of age and include severe haemolytic anaemia,
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