{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,1,27]],"date-time":"2024-01-27T18:38:55Z","timestamp":1706380735501},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[1995,12,1]],"date-time":"1995-12-01T00:00:00Z","timestamp":817776000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Jap J Human Genet"],"published-print":{"date-parts":[[1995,12]]},"DOI":"10.1007\/bf01900604","type":"journal-article","created":{"date-parts":[[2005,7,7]],"date-time":"2005-07-07T06:51:42Z","timestamp":1120719102000},"page":"347-349","source":"Crossref","is-referenced-by-count":3,"title":["Predominance of the mutation at 1138 of the cDNA for the fibroblast growth factor receptor 3 in Japanese patients with achondroplasia"],"prefix":"10.1038","volume":"40","author":[{"given":"Hidefumi","family":"Tonoki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Nakae","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshihiro","family":"Tajima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nozomi","family":"Shinohara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junichi","family":"Monji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigenobu","family":"Satoh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Fujieda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[1995,12,1]]},"reference":[{"key":"BF01900604_CR1","first-page":"368","volume":"56","author":"GA Bellus","year":"1995","unstructured":"Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA (1995): Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet56:368\u2013373","journal-title":"Am J Hum Genet"},{"key":"BF01900604_CR2","volume-title":"Syndromes of the head and neck","author":"RJ Gorlin","year":"1990","unstructured":"Gorlin RJ, Cohen MM, Levin LS (1990): Syndromes of the head and neck, 3rd ed., Oxford University Press, New York","edition":"3rd ed."},{"key":"BF01900604_CR3","volume-title":"Smith's recognizable patterns of human malformation","author":"KL Jones","year":"1988","unstructured":"Jones KL (1988). Smith's recognizable patterns of human malformation, 4th ed., WB Saunders, Philadelphia","edition":"4th ed."},{"key":"BF01900604_CR4","first-page":"31","volume":"23","author":"Y Kuroki","year":"1994","unstructured":"Kuroki Y, Adachi K, Imaizumi K, et al. \u2014 18 authors (1994): The result of malformation screening of newborns. Kanagawa Children's Medical CenterJ 23:31\u201337 (in Japanese)","journal-title":"Kanagawa Children's Medical Center J"},{"key":"BF01900604_CR5","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1038\/ng0295-101","volume":"9","author":"JJ Mulvihil","year":"1995","unstructured":"Mulvihil JJ (1995): Craniofacial syndrome: no such things as a single gene disease. Nature Genet9:101\u2013103","journal-title":"Nature Genet"},{"key":"BF01900604_CR6","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1038\/371252a0","volume":"371","author":"F Rousseau","year":"1994","unstructured":"Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A (1994): Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature371:252\u2013254","journal-title":"Nature"},{"key":"BF01900604_CR7","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1016\/0092-8674(94)90302-6","volume":"78","author":"R Shiang","year":"1994","unstructured":"Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ (1994): Mutations in the transmembrane domain of FGFR-3 cause the most common genetic form of dwarfism, achondroplasia. Cell78:335\u2013342","journal-title":"Cell"},{"key":"BF01900604_CR8","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1002\/ajmg.1320550132","volume":"55","author":"I Stoilov","year":"1995","unstructured":"Stoilov I, Kilpatrick MW, Tsipouras P (1995): A common FGFR3 gene mutation present in achondroplasia but not in hypochondroplasia. Am J Med Genet55:127\u2013133","journal-title":"Am J Med Genet"}],"container-title":["Japanese journal of human genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg199533.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg199533","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.springerlink.com\/index\/pdf\/10.1007\/BF01900604","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/www.nature.com\/articles\/jhg199533.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T19:30:36Z","timestamp":1638387036000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg199533"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,12]]},"references-count":8,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1995,12]]}},"alternative-id":["BF01900604"],"URL":"https:\/\/doi.org\/10.1007\/bf01900604","relation":{},"ISSN":["0021-5074"],"issn-type":[{"value":"0021-5074","type":"print"}],"subject":[],"published":{"date-parts":[[1995,12]]}}}