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Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease

  • Published:2002-11 Issue:7 Volume:25 Page:557-570
  • ISSN:0141-8955
  • Container-title:Journal of Inherited Metabolic Disease
  • language:en
  • Short-container-title:J Inherit Metab Dis

Author:

Zeng B. J.1,Wang Z. H.1,Ribeiro L. A.12,Leone P.3,De Gasperi R.1,Kim S. J.1,Raghavan S.1,Ong E.1,Pastores G. M.1,Kolodny E. H.1

Affiliation:

1. ; Department of Neurology; New York University School of Medicine; New York

2. ; Department of Genetics; Sao Paulo State University; Sao Paulo Brazil

3. ; Division of Neurosurgery, Department of Surgery; University of Medicine and Dentistry of New Jersey; Camden New Jersey USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. A radiometric assay for aspartoacylase activity in human fibroblasts: application for the diagnosis of Canavan's disease;Barash;Clin Chim Acta,1991

2. Canavan's spongiform leukodystrophy;Baslow;J Mol Neurosci,2000

3. The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel;Elpeleg;Am J Hum Genet,1994

4. The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients;Elpeleg;J Inherit Metab Dis,1999

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