Article
Spectrum of mutations in aspartylglucosaminuria.
Proceedings of the National Academy of Sciences of the United States of America - 15 Dec 1991
Ikonen E, Aula P, Grön K, Tollersrud O, Halila R, Manninen T, Syvänen A C, Peltonen L
Abstract excerpt
Aspartylglucosaminuria (AGU) is an inherited lysosomal storage disorder caused by the deficiency of aspartylglucosaminidase. We have earlier reported a single missense mutation (Cys163----Ser) to be responsible for 98% of the AGU alleles in the isolated Finnish population, which contains about 90% of the reported AGU patients. Here we describe the spectrum of 10 AGU mutations found in unrelated patients of...
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