{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T04:14:01Z","timestamp":1745554441866,"version":"3.40.4"},"reference-count":3,"publisher":"S. Karger AG","issue":"1-2","license":[{"start":{"date-parts":[[2000,10,30]],"date-time":"2000-10-30T00:00:00Z","timestamp":972864000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2000,10,30]],"date-time":"2000-10-30T00:00:00Z","timestamp":972864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Hered"],"published-print":{"date-parts":[[2001]]},"abstract":"<jats:p>Hereditary hyperphenylalaninemia (HPA) is a disorder of amino acid metabolism and results from an insufficiency of hepatic phenylalanine hydroxylase (PAH). HPA phenotypes form a spectrum ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninemia (MHP). The phenotypic diversity reflects heterogeneity at the molecular level, and more than 320 different mutations in the &lt;i&gt;PAH &lt;\/i&gt;gene are known to date. The association of 3 mutations (R408W, IVS10 and A403V) common in different European populations with a variable number tandem repeat (VNTR) and short tandem repeat sites (minihaplotype) in the &lt;i&gt;PAH &lt;\/i&gt;gene was examined in a group of Polish PKU and MHP patients. Additionally, minihaplotypes were established for another 16 mutations. The presented data support the hypothesis that the R408W\/VNTR3\/STR238 allele originated among pre-Indo-Europeans on the territory in present-day Lithuania and Belarus. Mutation IVS10nt\u201311g\u2192a (IVS10) is strongly associated with VNTR7\/STR250 minihaplotype and is possibly of Mediterranean origin.<\/jats:p>","DOI":"10.1159\/000022951","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T17:26:45Z","timestamp":1050427605000},"page":"117-120","source":"Crossref","is-referenced-by-count":5,"title":["Association between Minihaplotypes and Mutations at the &lt;i&gt;PAH&lt;\/i&gt; Locus in Polish Hyperphenylalaninemic Patients"],"prefix":"10.1159","volume":"51","author":[{"given":"Cezary","family":"\u017bekanowski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Jurkowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerzy","family":"Bal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2000,10,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1006\/mcpr.1994.1044"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1086\/301869"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050299"}],"container-title":["Human Heredity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/22951","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/22951","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:48:26Z","timestamp":1745470106000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000022951"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,10,30]]},"references-count":3,"journal-issue":{"issue":"1-2","published-online":{"date-parts":[[2000,10,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000022951","archive":["Portico"],"relation":{},"ISSN":["0001-5652","1423-0062"],"issn-type":[{"type":"print","value":"0001-5652"},{"type":"electronic","value":"1423-0062"}],"subject":[],"published":{"date-parts":[[2000,10,30]]}}}