{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T05:19:52Z","timestamp":1698297592388},"reference-count":8,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":6305,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1988,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>GUSB, the gene for \u03b2\u2010glucuronidase, has been localized to the proximal long arm of chromosome 7 between 7q11.2 and 7q22. Deficiency of \u03b2\u2010glucuronidase results in mucopolysaccharidosis type VII (MPS VII, Sly syndrome). The enzymatic defect has been demonstrated in cultured skin fibroblasts, leukocytes and serum of affected patients.<\/jats:p><jats:p>An 8\u2010yr\u2010old boy presented with manifestations similar to MPS VII (mental retardation, short stature, \u201ccoarse\u201d facial appearance, mild skeletal involvement and recurrent lower respiratory tract infection) but other, discrepant abnormalities, e. g., bilateral iris colobomata and cleft palate. Normal activity of \u03b2\u2010glucuronidase was found in the patient's leukocytes. Chromosome analysis disclosed an interstitial deletion of 7q with one breakpoint at the interface between bands 11.22 and 11.23 and the other breakpoint within band 21.1. DNA from this patient's leukocytes was analyzed for dosage of GUSB sequences. This locus appeared to be present at the normal diploid level.<\/jats:p><jats:p>These findings suggest that GUSB is not in the portion of chromosome 7 deleted in our case, narrowing the smallest region of overlap to 7q21.1 \u2192 7q22. We therefore assign the \u03b2\u2010glucuronidase gene to 7q21.1 \u2192 7q22.<\/jats:p>","DOI":"10.1002\/ajmg.1320290307","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:06:26Z","timestamp":1118545586000},"page":"517-522","source":"Crossref","is-referenced-by-count":11,"title":["Deletion mapping of the \u03b2\u2010glucuronidase gene"],"prefix":"10.1002","volume":"29","author":[{"given":"Judith E.","family":"Allanson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert M.","family":"Gemmill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara K.","family":"Hecht","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanley","family":"Johnsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David A.","family":"Wenger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Optiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274695"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250208"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01442.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01542721"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00484467"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000131398"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283642"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0024-3205(76)90047-3"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320290307","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320290307","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T17:53:29Z","timestamp":1697997209000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320290307"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,3]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1988,3]]}},"alternative-id":["10.1002\/ajmg.1320290307"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320290307","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,3]]}}}