Associated Papers
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Mendes MI et al.
Human Mutation, 2017
Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan's disease.
Sreevishnupriya K et al.
Science China. Life Sciences, 2012
Mutational analysis of aspartoacylase: implications for Canavan disease.
Hershfield JR et al.
Brain Research, 2007
Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Zeng BJ et al.
Advances in Experimental Medicine and Biology, 2006
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Zeng BJ et al.
Journal of Inherited Metabolic Disease, 2002
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