A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping.
Department of Pediatrics, University of British Columbia, Vancouver, Canada. marioncm@interchange.ubc.ca
M B
MB
Coulter-Mackie
D001224:Aspartic Acid / Q000235:genetics; D054880:Aspartylglucosaminuria; D001227:Aspartylglucosylaminase / Q000235:genetics*; D005091:Exons; D005998:Glycine / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
D001224:Aspartic Acid; D001227:Aspartylglucosylaminase; D005998:Glycine