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One bp deletion at position 787 or 788 (\u0394T<jats:sup>788<\/jats:sup>) in exon 7 of the GA gene resulted in a frameshift and produced an immediate stop codon. The resulting truncated polypeptide was defective in its post\u2010translational proteolytic processing and remained as a single chain (36 kDa) with no GA activity.<\/jats:p>","DOI":"10.1007\/bf01799351","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:36:43Z","timestamp":1119371803000},"page":"76-83","source":"Crossref","is-referenced-by-count":5,"title":["Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin"],"prefix":"10.1002","volume":"19","author":[{"given":"H.","family":"Park","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, College of Medicine University of South Alabama  MSB 2152 Mobile AL 36688 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Rossiter","sequence":"additional","affiliation":[{"name":"Department of Paediatrics North Middlesex Hospital  London"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. 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