{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,11,19]],"date-time":"2024-11-19T15:54:54Z","timestamp":1732031694019},"reference-count":8,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1988,10,4]],"date-time":"1988-10-04T00:00:00Z","timestamp":591926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1989,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Different mutations of the phenylalanine hydroxylase (PAH) gene leading to phenylketonuria (PKU) have been described associated with specific haplotypes in several European countries. In order to investigate the distribution of DNA haplotypes in Italy, restriction fragment length polymorphism (RFLP) analysis of the PAH gene was performed in nine Italian PKU patients from eight unrelated families, and in the available relatives. The analysis of eight polymorphic sites revealed haplotypes 1 and 6 in association with PKU. This pattern appears to differ from those reported for other European populations.<\/jats:p><jats:p>The majority of the 14 PKU subjects studied showed compound heterozygosity for different haplotypes, as observed for other European series.<\/jats:p><jats:p>RFLP analysis at the PAH locus allowed us to offer the possibility of prenatal diagnosis to six of the studied families. One prenatal diagnosis was performed and a normal fetus was diagnosed.<\/jats:p>","DOI":"10.1007\/bf01800721","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:06:50Z","timestamp":1119373610000},"page":"162-165","source":"Crossref","is-referenced-by-count":3,"title":["RFLPs of the phenylalanine hydroxylase gene in the Italian population"],"prefix":"10.1002","volume":"12","author":[{"given":"I.","family":"Dianzani","sequence":"first","affiliation":[{"name":"Institute of Clinical Paediatrics and Department of Biomedical Sciences and Human Oncology University of Turin  Turin 10100 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Farinasso","sequence":"additional","affiliation":[{"name":"Institute of Clinical Paediatrics and Department of Biomedical Sciences and Human Oncology University of Turin  Turin 10100 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Fortina","sequence":"additional","affiliation":[{"name":"Institute of Clinical Paediatrics and Department of Biomedical Sciences and Human Oncology University of Turin  Turin 10100 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Camaschella","sequence":"additional","affiliation":[{"name":"Institute of Clinical Paediatrics and Department of Biomedical Sciences and Human Oncology University of Turin  Turin 10100 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Ponzone","sequence":"additional","affiliation":[{"name":"Institute of Clinical Paediatrics and Department of Biomedical Sciences and Human Oncology University of Turin  Turin 10100 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u2010H. M.","family":"Dahl","sequence":"additional","affiliation":[{"name":"The Murdoch Institute Royal Children's Hospital  Parkville 3052 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. G. H.","family":"Cotton","sequence":"additional","affiliation":[{"name":"The Murdoch Institute Royal Children's Hospital  Parkville 3052 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Ponzone","sequence":"additional","affiliation":[{"name":"Institute of Clinical Paediatrics and Department of Biomedical Sciences and Human Oncology University of Turin  Turin 10100 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1988,10,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291734"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799706"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00352a001"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442048"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291733"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(87)92127-1"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291732"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V68.3.646.646"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01800721","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01800721","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T00:44:06Z","timestamp":1694738646000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01800721"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,10,4]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1989,6]]}},"alternative-id":["10.1007\/BF01800721"],"URL":"https:\/\/doi.org\/10.1007\/bf01800721","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,10,4]]}}}