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Year | Number of Results |
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1991 | 3 |
1995 | 1 |
2024 | 0 |
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In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation.
Genomics. 1991 Sep;11(1):206-11. doi: 10.1016/0888-7543(91)90120-4.
Genomics. 1991.
PMID: 1765378
Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.
Mononen I, Heisterkamp N, Kaartinen V, Williams JC, Yates JR 3rd, Griffin PR, Hood LE, Groffen J.
Mononen I, et al.
Proc Natl Acad Sci U S A. 1991 Apr 1;88(7):2941-5. doi: 10.1073/pnas.88.7.2941.
Proc Natl Acad Sci U S A. 1991.
PMID: 2011603
Free PMC article.
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Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits.
Fisher KJ, Aronson NN Jr.
Fisher KJ, et al.
J Biol Chem. 1991 Jun 25;266(18):12105-13.
J Biol Chem. 1991.
PMID: 1904874
Free article.
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Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.
Isoniemi A, Hietala M, Aula P, Jalanko A, Peltonen L.
Isoniemi A, et al.
Hum Mutat. 1995;5(4):318-26. doi: 10.1002/humu.1380050408.
Hum Mutat. 1995.
PMID: 7627186
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