Associated Papers
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › ASPA
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Mendes MI et al.
Human Mutation, 2017
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
27219052 (PubMed )
Supplement: pone.0155552.s003.pdf
Molecular basis of Canavan's disease: from human to mouse.
Surendran S et al.
Journal of Child Neurology, 2003
Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings.
Matalon RM et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2000
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.
Elpeleg ON et al.
Journal of Inherited Metabolic Disease, 1999
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