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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Autors principals: Ikonen, E, Aula, P, Grön, K, Tollersrud, O, Halila, R, Manninen, T, Syvänen, A C, Peltonen, L
Format: Artigo
Idioma:Inglês
Publicat: 1991
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC53106/
https://ncbi.nlm.nih.gov/pubmed/1722323
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