Article
Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient.
FEBS letters - 19 Aug 1991
Fisher K J, Aronson N N
Abstract excerpt
We have indentified a GT-to-TT transversion at the splice donor site of intron 8 in the glycosylasparaginase gene from an African American aspartylglucosaminuria (AGU) patient. This mutation causes abnormal splicing of glycosylasparaginase pre-mRNA by joining exon 7 to 9 and excluding 134 bp exon...
Topics
- Acetylglucosamine
- Amino Acid Sequence
- Aspartylglucosaminuria
- Aspartylglucosylaminase
- Base Sequence
- Black People
- Child
- Chromosome Deletion
- Exons
- Fluorescent Antibody Technique
- Glycosuria
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Protein Conformation
- RNA Splicing