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Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease

โœ Scribed by Huiwen Zhang; Xiaoqin Liu; Xuefan Gu


Book ID
113498871
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
434 KB
Volume
32
Category
Article
ISSN
0387-7604

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## To the Editor: Canavan disease (CD) is an autosomal recessive neurodegenerative disorder affecting white matter and leading to spongy degeneration. Macroencephaly is characteristic in children with this severe leukodystrophy. The disease is caused by the deficiency of aspartoacylase (ASPA) and i