{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T15:35:33Z","timestamp":1762875333841},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2008,6,28]],"date-time":"2008-06-28T00:00:00Z","timestamp":1214611200000},"content-version":"vor","delay-in-days":4137,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[1997,3]]},"abstract":"<jats:p>Glycogen storage disease type 1a (GSD 1a) is an autosomal recessive metabolic disorder caused by a deficiency in glucose\u20106\u2010phosphatase (G6Pase). We analyzed the G6Pase gene of two unrelated Japanese families with GSD 1a. DNA sequencing of all five exons and exon\u2010intron junctions revealed a G\u2010to\u2010T transversion at nucleotide 727 (G727T) in exon 5, which has been previously reported to cause abnormal splicing. Family studies using mismatch PCR showed that three patients were homozygous for the G727T mutation, while the parents were heterozygous. To investigate allele frequencies, we screened 216 Japanese healthy volunteers and found one asymptomatic carrier. Our findings suggest that the G727T mutation may be prevalent in Japan.<\/jats:p>","DOI":"10.1111\/j.1399-0004.1997.tb02449.x","type":"journal-article","created":{"date-parts":[[2010,7,19]],"date-time":"2010-07-19T10:11:24Z","timestamp":1279534284000},"page":"179-183","source":"Crossref","is-referenced-by-count":21,"title":["Identification of a point mutation (G727T) in the glucose\u20106\u2010phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers"],"prefix":"10.1111","volume":"51","author":[{"given":"Minoru","family":"Okubo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiko","family":"Aoyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiko","family":"Kishimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshimasa","family":"Shishiba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshio","family":"Murase","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,6,28]]},"reference":[{"key":"e_1_2_1_1_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198801073180102"},{"key":"e_1_2_1_2_1","first-page":"925","volume-title":"The metabolic and molecular bases of inherited diseases","author":"Chen Y\u2010T","year":"1995"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.6.1095"},{"key":"e_1_2_1_4_1","first-page":"549","article-title":"Exon redefinition by a point mutation within exon 5 of the glucose\u20106\u2010phosphatase gene is the major cause of glycogen storage disease type la in Japan","volume":"57","author":"Kajihara S","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00210743"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8211187"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117192"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117645"},{"key":"e_1_2_1_9_1","first-page":"766","article-title":"Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose\u20106\u2010phosphatase locus","volume":"57","author":"Lei K\u2010J","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-203"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1996.1055"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711368"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000188616"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.1997.tb02449.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.1997.tb02449.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T21:18:47Z","timestamp":1698441527000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.1997.tb02449.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,3]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1997,3]]}},"alternative-id":["10.1111\/j.1399-0004.1997.tb02449.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.1997.tb02449.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,3]]}}}