{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T08:46:30Z","timestamp":1791103590963,"version":"4.1.0"},"reference-count":10,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,5]]},"abstract":"<jats:p>Both alleles of 24 French glycogen storage disease type 1a patients were sequenced: 14 different mutations allowed the identification of complete genotypes for all the patients. Nine new gene alterations are reported. Five mutations, Q347X, R83C, D38V, G188R, and 158 del C, account for 75% of the mutated alleles. These data show that the molecular pathology of the glucose-6-phosphatase gene is heterogeneous in this population. Complete genotyping of the index case by systematic sequencing is necessary to allow prenatal diagnosis in chorionic villi for at risk couples.<\/jats:p>","DOI":"10.1136\/jmg.33.5.358","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"358-360","source":"Crossref","is-referenced-by-count":42,"title":["Mutation analysis in 24 French patients with glycogen storage disease type 1a."],"prefix":"10.1136","volume":"33","author":[{"given":"F","family":"Chevalier-Porst","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Bozon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A M","family":"Bonardot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Bruni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Mithieux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Mathieu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Maire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1996,5,1]]},"reference":[{"key":"ref_1","first-page":"935","article-title":"Glycogen storage disease","volume-title":"The metabolic and molecular bases of inherited disease","author":"Chen, Y.T.; Burchell, A.","year":"1995","unstructured":"Chen YT, Burchell A. Glycogen storage disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill, 1995: 935-65.","edition":"7th ed"},{"key":"ref_2","first-page":"21482","article-title":"Isolation of the gene for mgluyrciongeenglsutcoorasgee-6d-ipsheoasspehattyapsee, la.thJe enzyme deficient","volume":"268","author":"Shelly, L.L.; Lei, K.J.; Pan, C.J.","year":"1993","unstructured":"Shelly LL, Lei KJ, Pan CJ, et al. 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Science 1993;262:580-3.","journal-title":"Science"},{"key":"ref_4","first-page":"\"the\" # \"1994","article-title":"Identification of mutations in the enzyme deficient in gene for glycogen gsltuocroasgee-6d-ipsheoasspehattyapsee,1","volume":"93","author":"Lei, K.J.; Pan, C.J.; Shelly, L.L.; Liu, J.L.; Chou, J.Y.","year":"1994","unstructured":"Lei KJ, Pan CJ, Shelly LL, Liu JL, Chou JY. Identification of mutations in the enzyme deficient in gene for glycogen gsltuocroasgee-6d-ipsheoasspehattyapsee,1 the a. J Clin Invest 1994;93:1994-9."},{"key":"ref_5","first-page":"1","article-title":"Glycogen storage diseases","volume-title":"Advances in metabolic regulation. Vol 1","author":"Hers, H.G.","year":"1964","unstructured":"Hers HG. Glycogen storage diseases. In: Levine R, Luft R, eds. Advances in metabolic regulation. Vol 1. 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Biochem Biophys Res Commun 1994;201:302-9.","journal-title":"Biochem Biophys Res Commun"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/BF00711368","article-title":"Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type mutation in la: R83C a Muslim in six Arab","volume":"18","author":"Parvari, R.; Moses, S.; Hershkovitz, E.; Carmi, R.; Bashan, N.","year":"1995","unstructured":"Parvari R, Moses S, Hershkovitz E, Carmi R, Bashan N. Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type mutation in la: R83C a Muslim in six Arab. J Jews and a Inher Metab novel V166G Dis 1995;18: 21-7.","journal-title":"J Jews and a Inher Metab novel V166G Dis"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.5.358","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:39:27Z","timestamp":1760765967000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.5.358"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,5]]},"references-count":10,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1996,5,1]]},"published-print":{"date-parts":[[1996,5]]}},"alternative-id":["10.1136\/jmg.33.5.358"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.5.358","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,5]]}}}