{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T09:01:34Z","timestamp":1762506094423,"version":"3.40.4"},"reference-count":7,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2013,3,27]],"date-time":"2013-03-27T00:00:00Z","timestamp":1364342400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"},{"start":{"date-parts":[[2013,3,27]],"date-time":"2013-03-27T00:00:00Z","timestamp":1364342400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Dermatol"],"abstract":"<jats:p>Congenital erythropoietic porphyria (CEP) arises from an autosomal recessive inherited disorder of the porphyrin metabolism, which leads to the accumulation of uroporphyrinogen I in bone marrow, skin and several other tissues by a deficiency of uroporphyrinogen III cosynthase (UROS). We studied a Vietnamese patient and her family suffering from severe cutaneous photosensitivity with skin fragility, bullous lesions and hypertrichosis on light-exposed areas. A missense mutation in the UROS gene was identified as a transversion of G to T at nucleotide 11,776, resulting in a substitution of valine by phenylalanine at codon 3 of exon 2. The patient showed a homozygous mutant profile, and the heterozygous state was observed in the parents. The activity of mutated UROS expressed in &lt;i&gt;Escherichia coli&lt;\/i&gt; was less than 16.1% that of the control, indicating that the markedly reduced activity of UROS is responsible for CEP. We described for the first time a mutation in the UROS gene in a Southeast Asian patient and a molecular diagnosis for the identification of clinically asymptomatic heterozygous mutation carriers and families with CEP.<\/jats:p>","DOI":"10.1159\/000350679","type":"journal-article","created":{"date-parts":[[2013,4,3]],"date-time":"2013-04-03T07:55:59Z","timestamp":1364975759000},"page":"105-110","source":"Crossref","is-referenced-by-count":1,"title":["Congenital Erythropoietic Porphyria: Mutation of the Uroporphyrinogen III Cosynthase Gene in a Vietnamese Patient"],"prefix":"10.1159","volume":"5","author":[{"given":"Dao Hoang Thien","family":"Kim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asako","family":"Kawazoe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pham Dang","family":"Bang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nguyen Tien","family":"Thanh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeru","family":"Taketani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2013,3,27]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2141.2002.03557.x"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819970613%2970%3A3%3C299%3A%3AAID-AJMG16%3E3.0.CO%3B2-G"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddi029"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093%2Femboj%2F20.21.5832"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2133.2012.11154.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1006%2Fmthe.2001.0270"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007%2Fs11033-012-1497-z"}],"container-title":["Case Reports in Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/350679","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/350679","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:19:52Z","timestamp":1745432392000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000350679"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,27]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2013,4,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000350679","archive":["Portico"],"relation":{},"ISSN":["1662-6567"],"issn-type":[{"type":"electronic","value":"1662-6567"}],"subject":[],"published":{"date-parts":[[2013,3,27]]}}}