Determination of genotypic frequency of caprine mucopolysaccharidosis IIID

Journal of Veterinary Diagnostic Investigation

Volumn 10, Issue 2, 1998, Pages 181-183

  Hoard, Heidi M ^a   Leipprandt, Jeffrey R ^a   Cavanagh, Kevin T ^a   Truscott, Nancy K ^a   Levene, Beverly A L ^a   Friderici, Karen H ^a   Jones, Margaret Z ^a  

^a MICHIGAN STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL; ANIMAL DISEASE; ARTICLE; FEMALE; GENE FREQUENCY; GENETICS; GENOTYPE; GOAT; GOAT DISEASE; HETEROZYGOTE DETECTION; HOMOZYGOTE; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; SANFILIPPO SYNDROME;

ANIMALS; FEMALE; GENE FREQUENCY; GENOTYPE; GOAT DISEASES; GOATS; HETEROZYGOTE DETECTION; HOMOZYGOTE; MALE; MUCOPOLYSACCHARIDOSIS III; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 0032042033     PISSN: 10406387     EISSN: None     Source Type: Journal    
DOI: 10.1177/104063879801000212     Document Type: Article

References (8)

1. 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.
2. Friderici K, Cavanagh KT, Leipprandt JR, et al.: 1995, Cloning and sequence analysis of caprine N-acetylglucosamine 6-sulfatase cDNA. Biochim Biophys Acta 1271:369-373.
3. Jones MZ, Evans W, Alvord EC, Rutledge JC: 1995, Sanfilippo syndrome type IIID: neuropathological studies. J Neuropathol Exp Neurol 54:A239.
4. 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.
5. 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.
6. Richards B, Skoletsky J, Shuber AP, et al.: 1993, Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum Mol Genet 2:159-163.
7. Russell PJ: 1990, Genetics, 2nd ed., pp. 786-795. Scott, Foresman, Glenview, IL.
8. 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.