{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T12:59:39Z","timestamp":1761310779144},"publisher-location":"New York, NY","reference-count":13,"publisher":"Springer US","isbn-type":[{"type":"print","value":"9781461577058"},{"type":"electronic","value":"9781461577034"}],"license":[{"start":{"date-parts":[[1991,1,1]],"date-time":"1991-01-01T00:00:00Z","timestamp":662688000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1991]]},"DOI":"10.1007\/978-1-4615-7703-4_22","type":"book-chapter","created":{"date-parts":[[2012,5,16]],"date-time":"2012-05-16T17:54:10Z","timestamp":1337190850000},"page":"101-104","source":"Crossref","is-referenced-by-count":6,"title":["Molecular Analysis of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Japanese Patients"],"prefix":"10.1007","author":[{"given":"Shin","family":"Fujimori","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuo","family":"Tagaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Yamaoka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoyuki","family":"Kamatani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ieo","family":"Akaoka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"22_CR1","doi-asserted-by":"publisher","first-page":"1682","DOI":"10.1126\/science.155.3770.1682","volume":"155","author":"JE Seegmiller","year":"1967","unstructured":"J. E. Seegmiller, F. M. Rosenbloom and W. N. Kelley, Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science 155: 1682 (1967).","journal-title":"Science"},{"key":"22_CR2","doi-asserted-by":"publisher","first-page":"1735","DOI":"10.1073\/pnas.57.6.1735","volume":"57","author":"WN Kelley","year":"1967","unstructured":"W. N. Kelley, F. M. Rosenbloom, J. F. Henderson and J. E. Seegmiller, A specific enzyme defect in gout associated with overproduction of uric acid. Proc. Natl. Acad. Sci. USA 57: 1735 (1967).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"22_CR3","first-page":"1007","volume-title":"The metabolic basis of inherited disease 6 th, ed. C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, ed., McGraw-Hill, New York","author":"JT Stout","year":"1989","unstructured":"J. T. Stout and C. T. Caskey, Hypoxanthine phosporibosyltransferase: the Lesch-Nyhan syndrome and gouty arthritis, in The metabolic basis of inherited disease 6 th, ed. C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, ed., McGraw-Hill, New York, pp 1007 (1989)."},{"key":"22_CR4","first-page":"293","volume":"56","author":"S Miwa","year":"1986","unstructured":"S. Miwa, H. Fujii, K, T.ni, T. Miyamoto and Y, Nishida, Lesch-Nyhan syndrome in Japan. Jpn.,j. Exp. Lad. 56: 293 (1986).","journal-title":"Jpn.,j. Exp. Lad"},{"key":"22_CR5","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1111\/j.1442-200X.1989.tb01306.x","volume":"31","author":"T Igarashi","year":"1989","unstructured":"T. Igarashi, M. Minami and Y. Nishida, Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients. A\u00e7ta. Paediatr. Jpn. 31: 303 (1989).","journal-title":"Paediatr. Jpn"},{"key":"22_CR6","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1126\/science.239.4839.487","volume":"239","author":"RK Saiki","year":"1988","unstructured":"R. K. Saiki, D. H. Gelfand, S. Stoffel, S. J. Shari, R. Higuchi, G. T. Horn, K. B. Mullis and H. A. Erlich, Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239: 487 (1988).","journal-title":"Science"},{"key":"22_CR7","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1172\/JCI111047","volume":"72","author":"JM Wilson","year":"1983","unstructured":"J. M. Wilson, P. Frossard, R. L. Nussbaum, C. T. Caskey and W. N. Kelly, Human hypoxanthine guanine phosphoribosyltransferase: detection of a.mutant allele by restriction endonuclease analysis. 11\u201e, Clin. Invest. 72: 767 (1983).","journal-title":"Invest"},{"key":"22_CR8","first-page":"483","volume":"84","author":"S Fujimori","year":"1990","unstructured":"S. Fujimori, N. Kamatani, Y. Nishida, N. Ogasawara and I. Akaoka, Hypoxanthine guanine phosphoribosyltransferase deficiency:nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese. Hum. Genet. 84: 483 (1990).","journal-title":"Hypoxanthine guanine phosphoribosyltransferase deficiency:nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese. Hum. Genet"},{"key":"22_CR9","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1016\/0378-1119(86)90218-0","volume":"43","author":"HV Hershey","year":"1986","unstructured":"H. V. Hershey and M. W. Taylor, Nucleotide sequence and deduced amino acid sequence of Esherichia coli adenine phosphoribosyltransferase and comparison with other analogous enzymes. Gene 43: 287 (1986).","journal-title":"Gene"},{"key":"22_CR10","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/0378-1119(88)90601-4","volume":"68","author":"BL Davidson","year":"1988","unstructured":"B. L. Davidson, T. D. Palella and W. N. Kelley, Human hypoxanthine guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRT Midland). Gene 68: 85 (1988).","journal-title":"Gene"},{"key":"22_CR11","doi-asserted-by":"publisher","first-page":"1919","DOI":"10.1073\/pnas.86.6.1919","volume":"86","author":"RA Gibbs","year":"1989","unstructured":"R. A. Gibbs, P. N. Nguyen, L. J. McBride, S. M. Koepf and C. T. Caskey, Identification of mutations leading to Lesch-Nyhan syndrome by automated direct DNA sequencing in vitro amplified cDNA. Proc. Natl. Acad. a\u00e7j. USA 86: 1919 (1989).","journal-title":"Proc. Natl. Acad. a\u00e7j. USA"},{"key":"22_CR12","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1007\/BF00291707","volume":"79","author":"S Fujimori","year":"1988","unstructured":"S. Fujimori, Y. Hidaka, B. L. Davidson, T.D. Palella and W. N. Kelley, Identification of a single nucleotide change in a mutant gene for hypoxanthineguanine phosphoribosyltransferase (HPRT Ann Arbor). Hum. Genet. 79: 39 (1988).","journal-title":"Ann Arbor). Hum. Genet"},{"key":"22_CR13","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1172\/JCI114160","volume":"84","author":"BL Davidson","year":"1989","unstructured":"B. L. Davidson, S. A. Tarle, T. D. Palella and W. N. Kelley, Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts., J. clin. Invest. 84: 342 (1989).","journal-title":"J. clin. Invest"}],"container-title":["Advances in Experimental Medicine and Biology","Purine and Pyrimidine Metabolism in Man VII"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-1-4615-7703-4_22","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,2]],"date-time":"2019-05-02T12:35:19Z","timestamp":1556800519000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-1-4615-7703-4_22"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991]]},"ISBN":["9781461577058","9781461577034"],"references-count":13,"URL":"https:\/\/doi.org\/10.1007\/978-1-4615-7703-4_22","relation":{},"ISSN":["0065-2598","2214-8019"],"issn-type":[{"type":"print","value":"0065-2598"},{"type":"electronic","value":"2214-8019"}],"subject":[],"published":{"date-parts":[[1991]]}}}