€57,48 €47,50 hors TVA
Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues.
10 working days
Excl €5,95 shipping and administration per order (incl. VAT)
Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 3 |
| Mutation | c.155+1G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | MPS I |
Informations générales
Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues. This variant of the disease, known as Mucopolysaccharidosis Type I (MPS I) or Hurler Syndrome, is caused by a recessive mutation to the gene IDUA. The specific mutation analysed in this test is found in the Plott Hound. Related variants also occur in the Boston Terrier and Golden Retriever.
Caractéristiques cliniques
Affected puppies present with severely stunted growth, cloudy eyes, loss of vision and progressive lameness. Other symptoms can include joint disease and a long, protruding tongue.
Additional Information
Références
Pubmed ID: 1339393
Year published: 1992
Omia ID: 664
Omia variant ID: 911