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A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics. (Dahl)
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2012 (English)In: Scientific Reports, ISSN 2045-2322, Vol. 2, 730- p.Article in journal (Refereed) Published
Abstract [en]

Mutations in the lipase member H (LIPH) gene cause autosomal recessive hypotrichosis with woolly hair. We report herein on five consanguineous families from Pakistan segregating hypotrichosis and woolly hair. Genetic investigation using polymorphic microsatellite markers revealed homozygosity for a region spanning the HYPT7 locus on chromosome 3 in affected individuals of all five families. Sequence analysis of the LIPH gene revealed a novel nonsense mutation (p.Arg260X) associated with hypotrichosis without woolly hair in one family. In the remaining four families we identified previously described mutations in a homozygous state in affected members. These findings extend the spectrum of known LIPH mutations in the Pakistani population.

Place, publisher, year, edition, pages
2012. Vol. 2, 730- p.
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Medical and Health Sciences
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URN: urn:nbn:se:uu:diva-184912DOI: 10.1038/srep00730ISI: 000309957600002OAI: oai:DiVA.org:uu-184912DiVA: diva2:570579
Note

De två första författarna delar förstaförfattarskapet.

Available from: 2012-11-19 Created: 2012-11-15 Last updated: 2016-02-29Bibliographically approved

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Dahl, NiklasKlar, Joakim

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