Determination of Genotypic Frequency of Caprine Mucopolysaccharidosis IIID

Cavanagh KT Leipprandt JR Jones MZ Friderici K : 1995, Molecular defect of caprine N-acetylglucosamine-6-sulphatase deficiency. A single base substitution creates a stop codon in the 5'-region of the coding sequence J Inherited Metab Dis 18:96

Friderici K Cavanagh KT Leipprandt JR .: 1995, Cloning and sequence analysis of caprine N-acetylglucosamine 6-sulfatase cDNA Biochim Biophys Acta 1271:369–373

Jones MZ Evans W Alvord EC Rutledge JC : 1995, Sanfilippo syndrome type IIID: Neuropathological studies J Neuropathol Exp Neurol 54:A239

Leipprandt JR Friderici K Sprecher DJ Jones MZ : 1995, Prenatal testing for caprine N-acetylglucosamine-6-sulphatase deficiency and sex identification J Inherited Metab Dis 18:647–648

Neufeld EF Muenzer J : 1995, The mucopolysaccharidoses In: The metabolic and molecular bases of inherited disease, ed. Scriver CR Beaudet Al Sly WS Valle D , vol. 2, pp. 2465–2494. McGraw-Hill, New York, NY

Richards B Skoletsky J Shuber AP .: 1993, Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs Hum Mol Genet 2:159–163

Russell PJ : 1990, Genetics, 2nd ed., pp. 786–795. Scott, Foresman, Glenview, IL

Thompson JN Jones MZ Dawson G Huffman PS : 1992, N-acetylglucosamine 6-sulphatase deficiency in a nubian goat: a model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID) J Inherited Metab Dis 15:760–768