{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T08:35:41Z","timestamp":1765960541940},"reference-count":10,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,11,22]],"date-time":"2005-11-22T00:00:00Z","timestamp":1132617600000},"content-version":"vor","delay-in-days":6961,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1986,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Since the isolation of a recombinant containing a cDNA sequence for human phenylalanine hydroxylase (hPH) (Woo <jats:italic>et al.<\/jats:italic>, 1983; Speer <jats:italic>et al.<\/jats:italic>, 1986) prenatal diagnosis by linked restriction fragment length polymorphism (RFLPs) has become possible for families in which phenylketonuria (PKU) occurs (Lidsky <jats:italic>et al.<\/jats:italic>, 1985a). We describe here the application of a Hind III three\u2010allele RFLP in a single family, which allowed the prenatal diagnosis of an affected fetus.<\/jats:p>","DOI":"10.1002\/pd.1970060608","type":"journal-article","created":{"date-parts":[[2007,3,3]],"date-time":"2007-03-03T19:35:49Z","timestamp":1172950549000},"page":"447-450","source":"Crossref","is-referenced-by-count":8,"title":["Prenatal diagnosis of classical phenylketonuria by linked restriction fragment length polymorphism analysis"],"prefix":"10.1002","volume":"6","author":[{"given":"A.","family":"Speer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Bollman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Michel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Neumann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ch.","family":"Bommer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Hanke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Riess","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Cobet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ch.","family":"Coutelle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,22]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1542\/peds.74.3.406","article-title":"Symposium on genetic engineering and phenylketonuria","volume":"74","author":"Cederbaum S. D.","year":"1984","journal-title":"Paediatrics"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/13.10.3419"},{"key":"e_1_2_1_4_1","first-page":"1259","article-title":"Maternal phenylketonuria: finding and treating women before conception","volume":"126","author":"Hanley W. B.","year":"1982","journal-title":"Can. Med. Assoc. J."},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(85)91208-5"},{"key":"e_1_2_1_6_1","first-page":"619","article-title":"Extensive restriction site polymorphism in the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria","volume":"37","author":"Lidsky A. S.","year":"1985","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","unstructured":"SpeerA. RiessO. CobetG. HankeR. Dahl H.\u2010H. Cotton R. G. H. Coutelle Ch. (1986).Typing of families with classical phenylketonuria using three alleles of the Hind III linked restriction fragment polymorphism detectable with a phenylalanine hydroxylase cDNA probe Clin. Genet. in press.","DOI":"10.1111\/j.1399-0004.1986.tb00549.x"},{"key":"e_1_2_1_8_1","first-page":"1603","article-title":"Familiare und soziale Aspekte in Familien mil Phenylketonurie","volume":"38","author":"Theile H.","year":"1983","journal-title":"Dt. Gesundh. Wesen"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/306151a0"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.251.15.1998"},{"key":"e_1_2_1_11_1","first-page":"412","article-title":"Prenatal diagnosis and carrier detection of classical phenylketonuria by gene analysis","volume":"74","author":"Woo S. L. C.","year":"1984","journal-title":"Paediatrics"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1970060608","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1970060608","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T00:19:07Z","timestamp":1697933947000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1970060608"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,11]]},"references-count":10,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1986,11]]}},"alternative-id":["10.1002\/pd.1970060608"],"URL":"https:\/\/doi.org\/10.1002\/pd.1970060608","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,11]]}}}