{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:14:19Z","timestamp":1760188459219},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1994,9,16]],"date-time":"1994-09-16T00:00:00Z","timestamp":779673600000},"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":[[1995,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Glycogen storage disease type 1a (GSD 1a), an autosomal recessive disease, is caused by the inactivity of glucose\u20106\u2010phosphatase, the gene of which has been recently cloned. We report on the missense mutation C \u2192 T at nucleotide 326 of the G6Pase gene, causing the change of the Arg codon at position 83 into a Cys codon, as the single mutation detected in six Jewish patients. This finding suggests that this mutation might be prevalent among the Jewish population. A new missense mutation T \u2192 G at nucleotide 576 resulting in V166G was found in an Arab Muslim patient. These families may benefit now from pre\u2010 and postnatal diagnosis by analysis of DNA from blood and amniotic fluid or chorionic villus cells rather than liver biopsy. No mutations in the G6Pase gene were detected in two GSD 1b patients.<\/jats:p>","DOI":"10.1007\/bf00711368","type":"journal-article","created":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T08:43:56Z","timestamp":1101804236000},"page":"21-27","source":"Crossref","is-referenced-by-count":25,"title":["Characterization of the mutations in the glucose\u20106\u2010phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab"],"prefix":"10.1002","volume":"18","author":[{"given":"R.","family":"Parvari","sequence":"first","affiliation":[{"name":"Genetic Institute Ben Gurion University of the Negev  Beer Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Moses","sequence":"additional","affiliation":[{"name":"Pediatric Division, Soroka Medical Center, Faculty of Health Sciences Ben Gurion University of the Negev  Beer Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Hershkovitz","sequence":"additional","affiliation":[{"name":"Pediatric Division, Soroka Medical Center, Faculty of Health Sciences Ben Gurion University of the Negev  Beer Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Carmi","sequence":"additional","affiliation":[{"name":"Genetic Institute Ben Gurion University of the Negev  Beer Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Bashan","sequence":"additional","affiliation":[{"name":"Pediatric Biochemistry Laboratory Ben Gurion University of the Negev  Beer Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1994,9,16]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1854","volume-title":"Harrison's Principles of Internal Medicine","author":"Beaudet AL","year":"1991"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1096\/fasebj.4.12.2168325"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(88)90256-2"},{"key":"e_1_2_1_5_1","volume-title":"The VI International Congress of Inborn Errors of Metabolism","author":"Chou JY","year":"1994"},{"key":"e_1_2_1_6_1","first-page":"425","volume-title":"The Metabolic Basis of Inherited Disease","author":"Hers HG","year":"1989"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(63)90039-3"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8211187"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90258-T"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198307000-00006"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90129-8"},{"key":"e_1_2_1_12_1","first-page":"207","article-title":"Glycogen storage disease diagnosed in adults","volume":"299","author":"Pears JS","year":"1992","journal-title":"Q J Med, New Series 82"},{"key":"e_1_2_1_13_1","volume-title":"Molecular Cloning: A Laboratory Manual","author":"Sambrook J","year":"1989"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)66605-0"},{"key":"e_1_2_1_15_1","first-page":"1","volume-title":"Analysis of the Efficiency of Single Base Substitution Detected by SSCP","author":"Sheffield VC","year":"1992"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(20)80563-8"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2860173"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711368","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711368","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:02:59Z","timestamp":1694750579000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF00711368"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,9,16]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1995,1]]}},"alternative-id":["10.1007\/BF00711368"],"URL":"https:\/\/doi.org\/10.1007\/bf00711368","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,9,16]]}}}