{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:54:29Z","timestamp":1787014469755,"version":"build-2736575974"},"reference-count":18,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2010,2,25]],"date-time":"2010-02-25T00:00:00Z","timestamp":1267056000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2010,2,25]],"date-time":"2010-02-25T00:00:00Z","timestamp":1267056000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,4]]},"DOI":"10.1111\/j.1365-2133.2010.09646.x","type":"journal-article","created":{"date-parts":[[2010,2,25]],"date-time":"2010-02-25T10:52:21Z","timestamp":1267095141000},"page":"883-886","source":"Crossref","is-referenced-by-count":17,"title":["Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family"],"prefix":"10.1093","volume":"162","author":[{"given":"O.","family":"Messaoud","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Ben Rekaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Kefi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Chebel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Boughammoura-Bouatay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Bel Hadj Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Gouider-Khouja","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Zili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Frih-Ayed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Mokhtar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Abdelhak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Zghal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2010,2,25]]},"reference":[{"key":"10.1111\/j.1365-2133.2010.09646.x-BIB1|cit1","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1016\/j.biochi.2003.09.010","article-title":"DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy","volume":"85","author":"Lehmann","year":"2003","journal-title":"Biochimie"},{"key":"10.1111\/j.1365-2133.2010.09646.x-BIB2|cit2","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"},{"key":"10.1111\/j.1365-2133.2010.09646.x-BIB3|cit3","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6","article-title":"Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein","volume":"12","author":"States","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1111\/j.1365-2133.2010.09646.x-BIB4|cit4","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1212\/WNL.55.10.1442","article-title":"Cockayne syndrome and xeroderma pigmentosum","volume":"55","author":"Rapin","year":"2000","journal-title":"Neurology"},{"key":"10.1111\/j.1365-2133.2010.09646.x-BIB5|cit5","first-page":"134","article-title":"Le xeroderma pigmentosum et ses particularit\u00e9s en Tunisie","volume":"124","author":"Zghal","year":"1997","journal-title":"Ann Dermatol Venereol"},{"key":"10.1111\/j.1365-2133.2010.09646.x-BIB6|cit6","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res"},{"key":"10.1111\/j.1365-2133.2010.09646.x-BIB7|cit7","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1111\/1523-1747.ep12360046","article-title":"Absence of DNA repair deficiency in the confirmed heterozygotes of xeroderma pigmentosum group A","volume":"101","author":"Moriwaki","year":"1993","journal-title":"J Invest Dermatol"},{"key":"10.1111\/j.1365-2133.2010.09646.x-BIB8|cit8","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":"10.1111\/j.1365-2133.2010.09646.x-BIB9|cit9","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1111\/j.1365-2133.1994.tb08562.x","article-title":"Severe neurological abnormalities associated with a mutation in the zinc-finger domain in a group A xeroderma pigmentosum patient","volume":"131","author":"Maeda","year":"1994","journal-title":"Br J Dermatol"},{"key":"10.1111\/j.1365-2133.2010.09646.x-BIB10|cit10","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1111\/j.1365-2133.1995.tb02709.x","article-title":"Correlation of the clinical manifestations and gene mutations of Japanese xeroderma pigmentosum group A patients","volume":"133","author":"Kondoh","year":"1994","journal-title":"Br J Dermatol"},{"key":"10.1111\/j.1365-2133.2010.09646.x-BIB11|cit11","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":"10.1111\/j.1365-2133.2010.09646.x-BIB12|cit12","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1046\/j.1365-2133.2000.03611.x","article-title":"Compound heterozygous group A xeroderma pigmentosum patient with a novel mutation and an inherited reciprocal translocation","volume":"143","author":"Maeda","year":"2000","journal-title":"Br J Dermatol"},{"key":"10.1111\/j.1365-2133.2010.09646.x-BIB13|cit13","doi-asserted-by":"crossref","DOI":"10.1016\/S0246-0319(06)41213-9","volume-title":"Xeroderma pigmentosum","author":"Zghal","year":"2006"},{"key":"10.1111\/j.1365-2133.2010.09646.x-BIB14|cit14","doi-asserted-by":"crossref","DOI":"10.1111\/j.1365-4632.2010.04421.x","article-title":"Genetic homogeneity of mutational spectrum of group A xeroderma pigmentosum in Tunisian patients","author":"Messaoud","year":"2010","journal-title":"Int J Dermatol"},{"key":"10.1111\/j.1365-2133.2010.09646.x-BIB15|cit15","first-page":"1001","article-title":"High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia","volume":"53","author":"Nishigori","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1111\/j.1365-2133.2010.09646.x-BIB16|cit16","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1111\/j.1365-2133.2006.07272.x","article-title":"A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma","volume":"155","author":"Sidwell","year":"2006","journal-title":"Br J Dermatol"},{"key":"10.1111\/j.1365-2133.2010.09646.x-BIB17|cit17","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1086\/321295","article-title":"Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy","volume":"69","author":"Graham","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1111\/j.1365-2133.2010.09646.x-BIB18|cit18","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1136\/jmg.33.7.607","article-title":"Xeroderma pigmentosum - Cockayne syndrome complex: a further case","volume":"33","author":"Hamel","year":"1996","journal-title":"J Med Genet"}],"container-title":["British Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2133.2010.09646.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2133.2010.09646.x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1111\/j.1365-2133.2010.09646.x\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T08:47:56Z","timestamp":1676364476000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bjd\/article\/162\/4\/883\/6642426"}},"subtitle":["Primarily neurological XP-A clinical form"],"short-title":[],"issued":{"date-parts":[[2010,2,25]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,4]]}},"URL":"https:\/\/doi.org\/10.1111\/j.1365-2133.2010.09646.x","archive":["Portico"],"relation":{},"ISSN":["0007-0963"],"issn-type":[{"value":"0007-0963","type":"print"}],"subject":[],"published":{"date-parts":[[2010,2,25]]}}}