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Genetic analysis revealed 3 new missense mutations on tyrosine hydroxylase gene: [c.752C&gt;T(p.P251L) and c.887G&gt;A(p.R296Q] harbored by the father and c.836G&gt;T (p.C279F) of maternal origin. Bioinformatics tools have been helpful in predicting the pathogenic role of p.P251L and p.C279F substitutions, while a weak pathogenic effect was ascribed to p.R296Q.<\/jats:p>","DOI":"10.1177\/0883073811420717","type":"journal-article","created":{"date-parts":[[2011,9,22]],"date-time":"2011-09-22T21:35:21Z","timestamp":1316727321000},"page":"523-525","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":11,"title":["A New Tyrosine Hydroxylase Genotype Associated With Early-Onset Severe Encephalopathy"],"prefix":"10.1177","volume":"27","author":[{"given":"Teresa","family":"Giovanniello","sequence":"first","affiliation":[{"name":"Department of Experimental Medicine, Sapienza Universit\u00e0 di Roma, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianella","family":"Claps","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Bambino Ges\u00f9 Children\u2019s Hospital, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Carducci","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza Universit\u00e0 di Roma, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Carducci","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza Universit\u00e0 di Roma, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nenad","family":"Blau","sequence":"additional","affiliation":[{"name":"Division of Clinical Chemistry and Biochemistry, University Children\u2019s Hospital, Z\u00fcrich, Switzerland"},{"name":"Z\u00fcrich Center for Integrative Human Physiology, Z\u00fcrich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Vigevano","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Bambino Ges\u00f9 Children\u2019s Hospital, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Italo","family":"Antonozzi","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza Universit\u00e0 di Roma, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Leuzzi","sequence":"additional","affiliation":[{"name":"Department of Child Neurology and Psychiatry, Sapienza Universit\u00e0 di Roma, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2011,9,22]]},"reference":[{"key":"bibr1-0883073811420717","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.7.1209"},{"issue":"6","key":"bibr2-0883073811420717","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/BF00209496","volume":"95","author":"Ludecke B","year":"1995","journal-title":"Human Genet"},{"key":"bibr3-0883073811420717","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.7.1023"},{"key":"bibr4-0883073811420717","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq087"},{"key":"bibr5-0883073811420717","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10820"},{"key":"bibr6-0883073811420717","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000142083.47927.0A"},{"key":"bibr7-0883073811420717","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-991151"},{"key":"bibr8-0883073811420717","doi-asserted-by":"publisher","DOI":"10.1016\/0168-0102(91)90001-F"},{"key":"bibr9-0883073811420717","unstructured":"The National Center for Biotechnology Information. http:\/\/www.ncbi.nlm.nih.gov. 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