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A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase.
Hum Mutat. 2004 Oct;24(4):350-1. doi: 10.1002/humu.9276.
Hum Mutat. 2004.
PMID: 15365992
Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays.
Pastinen T, Kurg A, Metspalu A, Peltonen L, Syvänen AC.
Pastinen T, et al.
Genome Res. 1997 Jun;7(6):606-14. doi: 10.1101/gr.7.6.606.
Genome Res. 1997.
PMID: 9199933
Free article.
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Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.
Ikonen E, Baumann M, Grön K, Syvänen AC, Enomaa N, Halila R, Aula P, Peltonen L.
Ikonen E, et al.
EMBO J. 1991 Jan;10(1):51-8. doi: 10.1002/j.1460-2075.1991.tb07920.x.
EMBO J. 1991.
PMID: 1703489
Free PMC article.
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