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Aspartylglycosaminuria in a non-Finnish patient caused by a donor splice mutation in the glycoasparaginase gene.
Mononen I, Heisterkamp N, Kaartinen V, Mononen T, Williams JC, Groffen J. Mononen I, et al. Among authors: heisterkamp n. J Biol Chem. 1992 Feb 15;267(5):3196-9. J Biol Chem. 1992. PMID: 1737774 Free article.
We have recently shown that the molecular defect in all Finnish aspartylglycosaminuria patients examined to date consists of two single base changes in the heavy chain of glycoasparaginase (Mononen, I., Heisterkamp, N., Kaartinen, V., Williams, J. C., Yates, J. R., …
We have recently shown that the molecular defect in all Finnish aspartylglycosaminuria patients examined to date consists of two single base …
198 results