{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T18:41:08Z","timestamp":1775500868237,"version":"3.50.1"},"reference-count":19,"publisher":"Elsevier BV","issue":"1","content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2014,1]]},"DOI":"10.1016\/j.gene.2013.09.125","type":"journal-article","created":{"date-parts":[[2013,10,14]],"date-time":"2013-10-14T13:45:28Z","timestamp":1381758328000},"page":"52-56","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"title":["Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients"],"prefix":"10.1016","volume":"533","author":[{"given":"Khalda","family":"Amr","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olfa","family":"Messaoud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamad","family":"El Darouti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonia","family":"Abdelhak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghada","family":"El-Kamah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.gene.2013.09.125_bb0050","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.bbrc.2007.02.125","article-title":"Domains in the XPA protein important in its role as a processivity factor","volume":"356","author":"Bartels","year":"2007","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.gene.2013.09.125_bb0075","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1038\/jhg.2009.50","article-title":"High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis","volume":"54","author":"Ben Rekaya","year":"2009","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.09.125_bb0035","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1136\/jmg.2010.083022","article-title":"Cancer and neurologic degeneration in Xeroderma pigmentosum: long term follow-up characterizes the role of DNA repair","volume":"48","author":"Bradford","year":"2011","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2013.09.125_bb0015","first-page":"87","article-title":"Xeroderma pigmentosum: a case report and review of the literature","volume":"51","author":"Feller","year":"2010","journal-title":"J. Prev. Med. Hyg."},{"key":"10.1016\/j.gene.2013.09.125_bb0020","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1034\/j.1600-0625.2003.00124.x","article-title":"Molecular genetics of Xeroderma pigmentosum variant","volume":"12","author":"Gratchev","year":"2003","journal-title":"Exp. Dermatol."},{"key":"10.1016\/j.gene.2013.09.125_bb0005","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.mrfmmm.2006.06.010","article-title":"Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population","volume":"601","author":"Hirai","year":"2006","journal-title":"Mutat. Res."},{"key":"10.1016\/j.gene.2013.09.125_bb0040","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1001\/archderm.1987.01660260111026","article-title":"Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases","volume":"123","author":"Kraemer","year":"1987","journal-title":"Arch. Dermatol."},{"key":"10.1016\/j.gene.2013.09.125_bb0065","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/s00403-011-1190-4","article-title":"Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity","volume":"304","author":"Messaoud","year":"2012","journal-title":"Arch. Dermatol. Res."},{"key":"10.1016\/j.gene.2013.09.125_bb0045","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1016\/j.dnarep.2011.04.027","article-title":"Xeroderma pigmentosum family support group: helping families and promoting clinical initiatives","volume":"10","author":"Milota","year":"2011","journal-title":"DNA Repair (Amst)"},{"key":"10.1016\/j.gene.2013.09.125_bb0085","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1001\/archderm.1994.01690020057009","article-title":"Gene alterations and clinical characteristics of Xeroderma pigmentosum group A patients in Japan","volume":"130","author":"Nishigori","year":"1994","journal-title":"Arch. Dermatol."},{"key":"10.1016\/j.gene.2013.09.125_bb0080","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1016\/j.cell.2007.08.043","article-title":"Defective DNA repair and neurodegenerative disease","volume":"130","author":"Rass","year":"2007","journal-title":"Cell"},{"key":"10.1016\/j.gene.2013.09.125_bb0010","series-title":"Fitzpatrick's Dermatology in General Medicine","first-page":"1311","article-title":"Hereditary disorders of genome instability and DNA repair","author":"R\u00dcnger","year":"2008"},{"key":"10.1016\/j.gene.2013.09.125_bb0090","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/0921-8777(95)00052-6","article-title":"Aberrant splicing and truncated-protein expression due to a newly identified XPA gene mutation","volume":"362","author":"Sato","year":"1996","journal-title":"Mutat. Res."},{"key":"10.1016\/j.gene.2013.09.125_bb0060","doi-asserted-by":"crossref","first-page":"9908","DOI":"10.1073\/pnas.87.24.9908","article-title":"Characterization of a splicing mutation in group A Xeroderma pigmentosum","volume":"87","author":"Satokata","year":"1990","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.gene.2013.09.125_bb0055","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/0921-8777(92)90081-D","article-title":"Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A Xeroderma pigmentosum","volume":"273","author":"Satokata","year":"1992","journal-title":"Mutat. Res."},{"key":"10.1016\/j.gene.2013.09.125_bb0070","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1007\/BF02265282","article-title":"Molecular basis of group A Xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene","volume":"88","author":"Satokata","year":"1992","journal-title":"Hum. Genet."},{"key":"10.1016\/j.gene.2013.09.125_bb0095","doi-asserted-by":"crossref","first-page":"2481","DOI":"10.1038\/jid.2010.137","article-title":"XPA gene mutations resulting in subtle truncation of protein in Xeroderma pigmentosum group A patients with mild skin symptoms","volume":"130","author":"Takahashi","year":"2010","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.gene.2013.09.125_bb0030","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/348073a0","article-title":"Analysis of a human DNA excision repair gene involved in group A Xeroderma pigmentosum and containing a zinc finger domain","volume":"348","author":"Tanaka","year":"1990","journal-title":"Nature"},{"key":"10.1016\/j.gene.2013.09.125_bb0025","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1146\/annurev.bi.65.070196.001031","article-title":"DNA repair in eukaryotes","volume":"65","author":"Wood","year":"1996","journal-title":"Annu. Rev. Biochem."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913013620?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913013620?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,12]],"date-time":"2018-10-12T01:57:06Z","timestamp":1539309426000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111913013620"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["S0378111913013620"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2013.09.125","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2014,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2013.09.125","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}