Article
Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.
American journal of human genetics - 1 Jul 1996
Kaul R, Gao G P, Matalon R, Aloya M, Su Q, Jin M, Johnson A B, Schutgens R B, Clarke J T
Abstract excerpt
Canavan disease is inherited as an autosomal recessive trait that is caused by the deficiency of aspartoacylase (ASPA). The majority of patients with Canavan disease are from an Ashkenazi Jewish background. Mutations in ASPA that lead to loss of enzymatic activity have been identified, and E285A and Y231X are the two predominant mutations that account for 97% of the mutant chromosomes in Ashkenazi Jewish...
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