Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2)
Author:
Publisher
Elsevier BV
Subject
Dermatology,Molecular Biology,Biochemistry
Reference18 articles.
1. A locus for hereditary hypotrichosis localized to human chromosome 18q21.1;Rafique;Eur J Hum Genet,2003
2. A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33–q27. 3;Aslam;J Med Genet,2004
3. Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11–q21.32;Wali;Clin Genet,2007
4. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris;Kljuic;Cell,2003
5. Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1–17q25.3;Rafiq;Clin Genet,2004
Cited by 14 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis;Pharmaceuticals;2023-05-29
2. Intragenic deletion mutation in the gene desmoglein 4 underlies autosomal recessive hypotrichosis in six consanguineous families;Journal of Taibah University Medical Sciences;2016-06
3. Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6;Journal of Dermatological Science;2015-06
4. Genetics of human isolated hereditary hair loss disorders;Clinical Genetics;2014-11-22
5. Expression studies of a novel splice site mutation in theLIPHgene identified in a Japanese patient with autosomal recessive woolly hair;The Journal of Dermatology;2014-10
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