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Aspartylglucosaminuria (AGU): Protein and Gene Structure of Normal and Mutated Aspartylglucosaminidase

✍ Scribed by R. Halila; E. Ikonen; O. Tollersrud; A.C. Syvanen; N. Enomaa; L. Peltonen

Book ID
112237914
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
486 KB
Volume
50
Category
Article
ISSN
0885-4505

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Identification of a novel mutation causi
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene
✍ Annukka Isoniemi; Marja Hietala; Pertti Aula; Anu Jalanko; Leena Peltonen πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 921 KB

Aspartylglucosaminuria (AGU) is a recessively inherited metabolic disorder caused by the deficiency of a lysosomal enzyme, aspartylglucosaminidase. The worldwide most common mutation causing the disease is the AGU,,,, enriched in Finland; all the other known AGU mutations are family-specific. We dev