Canavan disease: Molecular basis of aspartoacylase deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00711811
Reference6 articles.
1. Kaul R, Casanova J, Johnson A, Tang P, Matalon R (1991) Purification, characterization and localization of aspartoacylase from bovine brain.J Neurochem 56: 129?135.
2. Kaul R, Gao GP, Balamurugan K, Matalon R (1993) Human aspartoacylase cDNA and missense mutation in Canavan disease.Nature Genet 5: 118?123.
3. Matalon R, Michals K, Sebasta D, Deanching M, Gashkoff P, Casanova J (1988) Apartoacylase deficiency andN-acetylaspartic aciduria in patients with Canavan disease.Am J Med Genet 29: 463?471.
4. Matalon R, Kaul R, Casanova J et al (1989) Aspartoacylase deficiency: the enzyme defect in Canavan disease.J Inher Metab Dis 12: 329?331.
5. Matalon R, Michals K, Gashkoff P, Kaul R (1992) Prenatal diagnosis of Canavan disease.J Inher Metab Dis 15: 392?394.
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