Please use this identifier to cite or link to this item: http://hdl.handle.net/11434/590
Title: De novo mutations in monilethrix.
Epworth Authors: Sinclair, Rodney
Other Authors: Horev, Liran
Djabali, K.
Green, Jack
Martinez-Mir, A.
Ingber, A.
Christiano, A. M.
Zlotogorski, Abraham
Keywords: DNA Mutational Analysis
Monilethrix
Hair Diseases
Hair Genetics
Epidermolytic Hyperkeratosis
Keratins
Mutation
Protein Structure
Monilethrix
Genotype
Follicular Hyperkeratosis
Chair of Dermatology, Epworth HealthCare, Victoria, Australia
Head & Neck Clinical Institute, Epworth HealthCare, Victoria, Australia
Issue Date: Dec-2003
Publisher: Wiley
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).
URI: http://hdl.handle.net/11434/590
DOI: 10.1111/j.0906-6705.2003.00022.x
PubMed URL: http://www.ncbi.nlm.nih.gov/pubmed/14714571
ISSN: 1600-0625
Journal Title: Experimental Dermatology
Type: Journal Article
Affiliated Organisations: Department of Dermatology, Hadassah University Medical Center, Jerusalem, Israel.
Type of Clinical Study or Trial: Case reports
Appears in Collections:Head & Neck
Dermatology

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