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In feline GM1 gangliosidosis, a pathogenic mutation (c.1448G&gt;C) of the feline GLB1 gene was identified in Siamese and Korat cats previously diagnosed with the disease in the USA and Italy, respectively. The present study demonstrated the same mutation in a Siamese cat that had been diagnosed with GM1 gangliosidosis in Japan in the 1960s. The mutation was confirmed using DNA extracted from stored paraffin-embedded brain tissue by a direct sequencing method and a polymerase chain reaction\u2013restriction fragment length polymorphism assay. This pathogenic mutation seems to have been distributed around the world.<\/jats:p>","DOI":"10.1177\/1098612x12454120","type":"journal-article","created":{"date-parts":[[2012,7,6]],"date-time":"2012-07-06T23:35:16Z","timestamp":1341617716000},"page":"900-902","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":8,"title":["Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s"],"prefix":"10.1177","volume":"14","author":[{"given":"Mohammad M","family":"Uddin","sequence":"first","affiliation":[{"name":"Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, Japan"},{"name":"Faculty of Veterinary Medicine, Chittagong Veterinary and Animal Sciences University, Bangladesh"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Tanimoto","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Yabuki","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takao","family":"Kotani","sequence":"additional","affiliation":[{"name":"Laboratory of Veterinary Pathology, Graduate School of Life & Environmental Sciences, Osaka Prefecture University, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuru","family":"Kuwamura","sequence":"additional","affiliation":[{"name":"Laboratory of Veterinary Pathology, Graduate School of Life & Environmental Sciences, Osaka Prefecture University, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hye-Sook","family":"Chang","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Yamato","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,7,6]]},"reference":[{"key":"bibr1-1098612X12454120","first-page":"3775","volume-title":"The metabolic and molecular bases of inherited disease","author":"Suzuki Y","year":"2001","edition":"8"},{"key":"bibr2-1098612X12454120","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1971.tb00226.x"},{"key":"bibr3-1098612X12454120","doi-asserted-by":"publisher","DOI":"10.1126\/science.174.4011.838"},{"key":"bibr4-1098612X12454120","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9975(72)90061-8"},{"key":"bibr5-1098612X12454120","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2990.1981.tb00246.x"},{"key":"bibr6-1098612X12454120","doi-asserted-by":"publisher","DOI":"10.1042\/bj2350151"},{"key":"bibr7-1098612X12454120","doi-asserted-by":"publisher","DOI":"10.1007\/s004010050899"},{"key":"bibr8-1098612X12454120","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.02.004"},{"key":"bibr9-1098612X12454120","first-page":"615","volume-title":"Consultations in feline internal medicine","author":"Baker HJ","year":"2001","edition":"4"},{"key":"bibr10-1098612X12454120","doi-asserted-by":"publisher","DOI":"10.2460\/ajvr.68.3.231"},{"key":"bibr11-1098612X12454120","first-page":"260","volume":"13","author":"Kuruhara Y","year":"1969","journal-title":"Adv Neurol Sci (Shinkei Kenkyu No Shimpo)"},{"key":"bibr12-1098612X12454120","first-page":"347","volume":"14","author":"Kuruhara Y","year":"1970","journal-title":"Adv Neurol Sci (Shinkei Kenkyu No Shimpo)"},{"key":"bibr13-1098612X12454120","unstructured":"Vella CM, Shelton LM, McGonagle JJ, et al. 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