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The present study supports the view that the clinical heterogeneity in PKU is accounted for by the large variety of mutant genotypes associated with PAH deficiencies.<\/jats:p>","DOI":"10.1136\/jmg.28.1.38","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"38-40","source":"Crossref","is-referenced-by-count":5,"title":["Two distinct mutations at a single BamHI site in phenylketonuria."],"prefix":"10.1136","volume":"28","author":[{"given":"D","family":"Melle","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Verelst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Rey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Berthelon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Fran\u00e7ois","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Lyonnet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,1,1]]},"reference":[{"key":"ref_1","first-page":"667","article-title":"Molecular genetics of phenylketonuria and its implications","volume":"45","author":"Levy, H.L.","year":"1989","unstructured":"Levy HL. 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Am3J Hum Genet 1989;44:511-7.","journal-title":"Am3J Hum Genet"},{"key":"ref_7","first-page":"211","article-title":"PKU mutations among caucasians. AmJ3 Hum Genet","volume":"45","author":"Okano, Y.; Wang, T.; Eisensmith, R.C.; Woo, S.L.C.","year":"1989","unstructured":"Okano Y, Wang T, Eisensmith RC, Woo SLC. PKU mutations among caucasians. AmJ3 Hum Genet 1989;45:211A."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.28.1.38","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:42:46Z","timestamp":1759686166000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.28.1.38"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,1]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1991,1,1]]},"published-print":{"date-parts":[[1991,1]]}},"alternative-id":["10.1136\/jmg.28.1.38"],"URL":"https:\/\/doi.org\/10.1136\/jmg.28.1.38","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1991,1]]}}}