{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T10:56:39Z","timestamp":1758192999608,"version":"3.44.0"},"reference-count":7,"publisher":"Necmettin Erbakan University Press","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In this article, we reported a patient with Crigler\u2013Najjar syndrome type II with high-unconjugated bilirubin levels that decreased after phenobarbital treatment. The patient had two novel missense mutations in the UGT1A1 gene and a promoter variant in one allele. One mutation was c.1001T\u2009&gt;\u2009C, that predicted leucine to proline substitution at position 334 (p.Leu334Pro). The other, c.1139A\u2009&gt;\u2009G, predicted glutamic acid to glycine replacement at position 380 (p.Glu380Gly). In silico analysis indicated that both mutations are likely pathogenic.<\/jats:p>","DOI":"10.1055\/s-0040-1714361","type":"journal-article","created":{"date-parts":[[2020,7,29]],"date-time":"2020-07-29T18:56:14Z","timestamp":1596048974000},"page":"323-325","source":"Crossref","is-referenced-by-count":1,"title":["Novel UGT1A1 Gene Mutations in a Boy with Crigler\u2013Najjar Syndrome Type II"],"prefix":"10.53391","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6018-3097","authenticated-orcid":false,"given":"David","family":"P\u00e9rez-Sol\u00eds","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, San Agust\u00edn University Hospital, Avil\u00e9s, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e1rbara","family":"Montes-Zapico","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, San Agust\u00edn University Hospital, Avil\u00e9s, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana-Cristina","family":"Rodr\u00edguez-Dehli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, San Agust\u00edn University Hospital, Avil\u00e9s, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Garc\u00eda-Hoyos","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, The National Institute of Genomic Medicine, S.L. Paterna, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mireia","family":"Arroyo-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, San Agust\u00edn University Hospital, Avil\u00e9s, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,7,29]]},"reference":[{"issue":"03","key":"ref1","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1016\/0002-9343(69)90224-1","article-title":"Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. 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