Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1997.tb02448.x/fullpdf
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5. Isolation of biologically active ribonucleic acid from sources enriched in ribonuciease;Chirgwin;Biochemistry,1979
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3. Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan;Brain and Development;2017-05
4. Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria;Scientific Reports;2016-11-23
5. Structural basis of aspartylglucosaminuria;Biochemical and Biophysical Research Communications;2008-12
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