Works matching DE "ASPARTYLGLUCOSAMINURIA"
Results: 3
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 983, doi. 10.1093/hmg/10.9.983
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- Publication type:
- Article
Functional Analysis of the Ser149/Thr149 Variants of Human Aspartylglucosaminidase and Optimization of the Coding Sequence for Protein Production.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 4, p. 706, doi. 10.3390/ijms18040706
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- Publication type:
- Article
Aspartylglucosaminuria: Unusual Neonatal Presentation in Qatari Twins With a Novel Aspartylglucosaminidase Gene Mutation and 3 New Cases in a Turkish Family.
- Published in:
- 2014
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- Publication type:
- Case Study