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Spectrum of mutations in aspartylglucosaminuria.

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% o...

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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Ikonen, E, Aula, P, Grön, K, Tollersrud, O, Halila, R, Manninen, T, Syvänen, A C, Peltonen, L
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1991
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC53106/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1722323/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.88.24.11222
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