Molecular defect of caprineN-acetylglucosamine-6-sulphatase deficiency. A single base substitution creates a stop codon in the 5?-region of the coding sequence-Reference-Cited by-同舟云学术

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Molecular defect of caprineN-acetylglucosamine-6-sulphatase deficiency. A single base substitution creates a stop codon in the 5?-region of the coding sequence

Published:1995 Issue:1 Volume:18 Page:96-96
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Cavanagh K. T.,Leipprandt J. R.,Jones M. Z.,Friderici K.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF00711390

Reference2 articles.

1. Robertson DA, Freeman C, Morris CP et al (1992) A cDNA clone for human glucosamine 6-sulfatase reveals differences between arylsulfatases and non-arylsulfatases.Biochem J 288: 539?544.

2. 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 Inher Metab Dis 15: 760?768.

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