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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...
में बचाया:
| मुख्य लेखकों: | , , , , , , , |
|---|---|
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
1991
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC53106/ https://ncbi.nlm.nih.gov/pubmed/1722323 |
| टैग : |
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