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|Title:||De novo mutations in monilethrix.|
|Epworth Authors:||Sinclair, Rodney|
|Other Authors:||Horev, Liran|
Christiano, A. M.
|Keywords:||DNA Mutational Analysis|
Chair of Dermatology, Epworth HealthCare, Victoria, Australia
Head & Neck Clinical Institute, Epworth HealthCare, Victoria, Australia
|Citation:||Exp Dermatol. 2003 Dec;12(6):882-5.|
|Abstract:||Mutations 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).|
|Journal Title:||Experimental Dermatology|
|Affiliated Organisations:||Department of Dermatology, Hadassah University Medical Center, Jerusalem, Israel.|
|Type of Clinical Study or Trial:||Case reports|
|Appears in Collections:||Head & Neck|
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