A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2)
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2008.01011.x/fullpdf
Reference20 articles.
1. A locus for hereditary hypotrichosis localized to human chromosome 18q21.1;Rafique;Eur J Hum Genet,2003
2. A mutation in the lipase H (LIPH) gene underlies autosomal recessive hypotrichosis;Ali;Hum Genet,2007
3. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris;Kljuic;Cell,2003
4. A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis;Rafiq;J Invest Dermatol,2004
5. Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family;Wajid;J Invest Dermatol,2007
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