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Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family

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dc.contributor.author Kurban M.
dc.contributor.author Shimomura Y.
dc.contributor.author Bahhady R.
dc.contributor.author Ghosn S.
dc.contributor.author Kibbi A.-G.
dc.contributor.author Christiano A.M.
dc.contributor.editor
dc.date Feb-2010
dc.date.accessioned 2017-10-05T15:32:45Z
dc.date.available 2017-10-05T15:32:45Z
dc.date.issued 2010
dc.identifier 10.1111/j.1468-3083.2009.03381.x
dc.identifier.isbn
dc.identifier.issn 09269959
dc.identifier.uri http://hdl.handle.net/10938/15371
dc.description.abstract [No abstract available]
dc.format.extent
dc.format.extent Pages: (232-234)
dc.language English
dc.publisher MALDEN
dc.relation.ispartof Publication Name: Journal of the European Academy of Dermatology and Venereology; Publication Year: 2010; Volume: 24; no. 2; Pages: (232-234);
dc.relation.ispartofseries
dc.relation.uri
dc.source Scopus
dc.subject.other
dc.title Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family
dc.type Letter
dc.contributor.affiliation Kurban, M., Department of Dermatology, Columbia University, New York, NY, United States
dc.contributor.affiliation Shimomura, Y., Department of Dermatology, Columbia University, New York, NY, United States
dc.contributor.affiliation Bahhady, R., Department of Dermatology, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation Ghosn, S., Department of Dermatology, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation Kibbi, A.-G., Department of Dermatology, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation Christiano, A.M., Department of Dermatology, Columbia University, New York, NY, United States, Department of Genetics and Development, Columbia University, New York, NY, United States
dc.contributor.authorAddress Christiano, A. M.; Department of Dermatology, Columbia University, New York, NY, United States; email: amc65@columbia.edu
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Dermatology;
dc.contributor.authorDepartment Dermatology
dc.contributor.authorDivision
dc.contributor.authorEmail amc65@columbia.edu
dc.contributor.faculty Faculty of Medicine
dc.contributor.authorInitials Kurban, M
dc.contributor.authorInitials Shimomura, Y
dc.contributor.authorInitials Bahhady, R
dc.contributor.authorInitials Ghosn, S
dc.contributor.authorInitials Kibbi, AG
dc.contributor.authorInitials Christiano, AM
dc.contributor.authorOrcidID
dc.contributor.authorReprintAddress Christiano, AM (reprint author), Columbia Univ, Dept Dermatol, New York, NY 10027 USA.
dc.contributor.authorResearcherID
dc.contributor.authorUniversity American University of Beirut Medical Center
dc.description.cited Akiyama M, 2006, J DERMATOL SCI, V42, P83, DOI 10.1016-j.jdermsci.2006.01.003; Dahlqvist J, 2007, J MED GENET, V44, P615, DOI 10.1136-jmg.2007.050542; de Juanes S, 2009, J INVEST DERMATOL, V129, P1429, DOI 10.1038-jid.2008.410; Eckl KM, 2005, HUM MUTAT, V26, P351, DOI 10.1002-humu.20236; Heidt M, 2000, LIPIDS, V35, P701, DOI 10.1007-s11745-000-0576-0; Hovnanian A, 2005, J CLIN INVEST, V115, P1708, DOI 10.1172-JCI25736; Lugassy J, 2008, ARCH DERMATOL RES, V300, P81, DOI 10.1007-s00403-007-0815-0; MELNIK B, 1989, CLIN GENET, V35, P152; Moran JL, 2007, J INVEST DERMATOL, V127, P1893, DOI 10.1038-sj.jid.5700825
dc.description.citedCount 1
dc.description.citedTotWOSCount 0
dc.description.citedWOSCount 0
dc.format.extentCount 3
dc.identifier.articleNo
dc.identifier.coden JEAVE
dc.identifier.pubmedID 19694890
dc.identifier.scopusID 74549141775
dc.identifier.url
dc.publisher.address COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA USA
dc.relation.ispartofConference
dc.relation.ispartofConferenceCode
dc.relation.ispartofConferenceDate
dc.relation.ispartofConferenceHosting
dc.relation.ispartofConferenceLoc
dc.relation.ispartofConferenceSponsor
dc.relation.ispartofConferenceTitle
dc.relation.ispartofFundingAgency
dc.relation.ispartOfISOAbbr J. Eur. Acad. Dermatol. Venereol.
dc.relation.ispartOfIssue 2
dc.relation.ispartOfPart
dc.relation.ispartofPubTitle Journal of the European Academy of Dermatology and Venereology
dc.relation.ispartofPubTitleAbbr J. Eur. Acad. Dermatol. Venereol.
dc.relation.ispartOfSpecialIssue
dc.relation.ispartOfSuppl
dc.relation.ispartOfVolume 24
dc.source.ID WOS:000273460000022
dc.type.publication Journal
dc.subject.otherAuthKeyword
dc.subject.otherChemCAS ALOX12B protein, human, 1.13.11.31
dc.subject.otherChemCAS Arachidonate 12-Lipoxygenase, 1.13.11.31
dc.subject.otherChemCAS Codon, Nonsense
dc.subject.otherIndex filaggrin
dc.subject.otherIndex genomic DNA
dc.subject.otherIndex abca12 gene
dc.subject.otherIndex alox12b gene
dc.subject.otherIndex aloxe3 gene
dc.subject.otherIndex autosomal recessive disorder
dc.subject.otherIndex case report
dc.subject.otherIndex chromosome 17
dc.subject.otherIndex clinical feature
dc.subject.otherIndex cyp4f22 gene
dc.subject.otherIndex follow up
dc.subject.otherIndex gene
dc.subject.otherIndex gene sequence
dc.subject.otherIndex human
dc.subject.otherIndex ichthyosis
dc.subject.otherIndex lamellar ichthyosis
dc.subject.otherIndex letter
dc.subject.otherIndex linkage analysis
dc.subject.otherIndex male
dc.subject.otherIndex newborn
dc.subject.otherIndex nipal4 gene
dc.subject.otherIndex non bullous congenital ichthylosiform erythroderma
dc.subject.otherIndex nonhuman
dc.subject.otherIndex nonsense mutation
dc.subject.otherIndex physical examination
dc.subject.otherIndex priority journal
dc.subject.otherIndex transglutaminase 1 gene
dc.subject.otherIndex Arachidonate 12-Lipoxygenase
dc.subject.otherIndex Codon, Nonsense
dc.subject.otherIndex Female
dc.subject.otherIndex Genes, Recessive
dc.subject.otherIndex Humans
dc.subject.otherIndex Ichthyosis
dc.subject.otherIndex Infant, Newborn
dc.subject.otherIndex Lebanon
dc.subject.otherIndex Male
dc.subject.otherIndex Pedigree
dc.subject.otherKeywordPlus HARLEQUIN ICHTHYOSIS
dc.subject.otherKeywordPlus LIPOXYGENASES
dc.subject.otherKeywordPlus EPIDERMIS
dc.subject.otherKeywordPlus PATTERN
dc.subject.otherWOS Dermatology


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