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Homeodomain revisited: a lesson from disease-causing mutations

✍ Scribed by Young-In Chi


Book ID
106134115
Publisher
Springer
Year
2005
Tongue
English
Weight
503 KB
Volume
116
Category
Article
ISSN
0340-6717

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This article provides a review of the mutations reported so far in the lysosomal storage disease aspartylglucosaminuria ( AGU). The clinical symptoms, biochemical findings, and diagnostic possibilities of the disease are introduced. The prevalence and biological consequences of the found mutations a