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Primary Ciliary Dyskinesia (PCD) is a genetic disease that results in defective cilia, the cellular structures responsible for moving fluids such as mucus.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informations générales
Primary Ciliary Dyskinesia (PCD) is a genetic disease that results in defective cilia, the cellular structures responsible for moving fluids such as mucus. PCD can cause severe and chronic airway infections and fertility problems. This variant of the disorder, found in the Alaskan Malamute, is caused by a recessive mutation to the gene NME5.
Caractéristiques cliniques
Affected puppies typically start presenting with symptoms of respiratory tract infections – a chronic productive cough, nasal discharge, excess mucus in the airways – several days after birth.
Additional Information
Références
Pubmed ID: 31479451
Omia ID: 2206