Please use this identifier to cite or link to this item: http://hdl.handle.net/11434/590
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dc.contributor.authorSinclair, Rodney-
dc.contributor.otherHorev, Liran-
dc.contributor.otherDjabali, K.-
dc.contributor.otherGreen, Jack-
dc.contributor.otherMartinez-Mir, A.-
dc.contributor.otherIngber, A.-
dc.contributor.otherChristiano, A. M.-
dc.contributor.otherZlotogorski, Abraham-
dc.date.accessioned2016-04-15T06:13:04Z-
dc.date.available2016-04-15T06:13:04Z-
dc.date.issued2003-12-
dc.identifier.citationExp Dermatol. 2003 Dec;12(6):882-5.en_US
dc.identifier.issn1600-0625en_US
dc.identifier.urihttp://hdl.handle.net/11434/590-
dc.description.abstractMutations in the hair keratins hHb1 and hHb6 have been recently reported to cause monilethrix, an autosomal dominant hair shaft disorder, characterized by variable degrees of hair fragility and follicular hyperkeratosis. We found 10 families with monilethrix in whicn the parents were not clinically affected, and sequenced the hair keratin hHb1, hHb2 and hHb6 genes in seven patients. In five patients no mutations were found, while in two patients we identified de novo germline missense mutations at the helix termination motif: E402K (hHb6) and E413K (hHb1).en_US
dc.publisherWileyen_US
dc.subjectDNA Mutational Analysisen_US
dc.subjectMonilethrixen_US
dc.subjectHair Diseasesen_US
dc.subjectHair Geneticsen_US
dc.subjectEpidermolytic Hyperkeratosisen_US
dc.subjectKeratinsen_US
dc.subjectMutationen_US
dc.subjectProtein Structureen_US
dc.subjectMonilethrixen_US
dc.subjectGenotypeen_US
dc.subjectFollicular Hyperkeratosisen_US
dc.subjectChair of Dermatology, Epworth HealthCare, Victoria, Australiaen_US
dc.subjectHead & Neck Clinical Institute, Epworth HealthCare, Victoria, Australiaen_US
dc.titleDe novo mutations in monilethrix.en_US
dc.typeJournal Articleen_US
dc.identifier.doi10.1111/j.0906-6705.2003.00022.xen_US
dc.identifier.journaltitleExperimental Dermatologyen_US
dc.description.pubmedurihttp://www.ncbi.nlm.nih.gov/pubmed/14714571en_US
dc.description.affiliatesDepartment of Dermatology, Hadassah University Medical Center, Jerusalem, Israel.en_US
dc.type.studyortrialCase reportsen_US
dc.type.contenttypeTexten_US
Appears in Collections:Dermatology
Head & Neck

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