Article
Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds.
Genomics - 15 Aug 2000
Aronovich E L, Carmichael K P, Morizono H, Koutlas I G, Deanching M, Hoganson G, Fischer A, Whitley C B
Abstract excerpt
Heparan sulfate sulfamidase (HSS) is a lysosomal exohydrolase that, when deficient, results in intralysosomal accumulation of heparan sulfate and the clinical phenotype of Sanfilippo syndrome type A. The first animal disease homolog of human Sanfilippo syndrome type A has been recently indentified in Dachshund littermates. To identify the molecular defect, the nucleotide sequences of the normal canine HSS gene...
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