Author:
Elpeleg O. N.,Shaag A.,Anikster Y.,Jakobs C.
Subject
Genetics(clinical),Genetics
Reference5 articles.
1. Bennet MJ, Gibson KM, Sherwood WG et al (1993). Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis.J Inher Metab Dis 16: 831?836.
2. Divry P, Vianey-Liaud C, Gay C, Macabeo V, Rapin F, Echenne B (1988)N-Acetylaspartic aciduria: Report of three new cases in children with a neurological syndrome associated macrocephaly and leukodystrophy.J Inher Metab Dis 11: 307?308.
3. Elpeleg ON, Anikster Y, Barash V, Branski D, Shaag A (1994) The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi-Jews in Israel.Am J Hum Genet 55: 287?288.
4. Kaul R, Gao GP, Balamurugan K, Matalon R (1993) Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.Nature Genet 5: 118?123.
5. Matalon R, Michals K, Sebesta D, Deanching M, Gaskoff P, Casanova J (1988) Aspartoacylase deficiency andN-acetylaspartic aciduria in patients with Canavan disease.Am J Med Genet 29: 463?471.
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