{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:52:33Z","timestamp":1761101553295},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1998,4,1]],"date-time":"1998-04-01T00:00:00Z","timestamp":891388800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1998,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen debranching enzyme (AGL). We report the finding of two new mutations in a GSD IIIa Ashkenazi Jewish patient. Both mutations are insertion of an adenine into a stretch of 8 adenines towards the 3\u2032 end of the coding region: one at position 3904 (3904insA) in exon 30, the second at position 4214 (4214insA) in exon 32. The mutations cause frameshifts and premature terminations of the glycogen debranching enzyme, the first causing a frameshift at amino acid 1304, the second causing a frameshift at amino acid 1408 of the total of 1532. These mutations demonstrate the importance of the 125 amino acids at the carboxy\u2010terminus of the debrancher enzyme for its activity and support the suggestion that the putative glycogen binding domain is located in the carboxy\u2010terminus of the AGL. The mutations cause distinctive single\u2010strand conformation polymorphism (SSCP) patterns enabling easy detection.<\/jats:p>","DOI":"10.1023\/a:1005343625756","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T21:48:34Z","timestamp":1040507314000},"page":"141-148","source":"Crossref","is-referenced-by-count":13,"title":["Two new mutations in the 3\u2032 coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient"],"prefix":"10.1002","volume":"21","author":[{"given":"R.","family":"Parvari","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Hershkovitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y. T.","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. 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