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A single-base deletion mutation in a Turkish patient with fucosidosis

✍ Scribed by Hee-Chan Seo; Jürgen Kunze; Patrick J. Willems; Alex H. Kim; Folker Hanefeld; John S. O'Brien

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
139 KB
Volume
3
Category
Article
ISSN
1059-7794

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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