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K600

Niemann-Pick C disease is a storage disorder which affects the transport of cholesterol.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

Niemann-Pick C disease is a storage disorder which affects the transport of cholesterol. This metabolic disorder allows certain kind of to accumulate in cells. The fat, sphingomyelin, accumulates in lysosomes (membrane-bound organelles in cells). The lysosomes are cell compartiments, responsible for the digestion of biomolecules.

Clinical features

Cats shows signs referrable to the cerebellum.

Additional information

References

Pubmed ID: 12809639

Omia ID: 725

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2. Collect DNA sample

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3. Results

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