A novel splice-siteECM1gene mutation in a Lebanese girl with lipoid proteinosis
Author:
Affiliation:
1. Department of Dermatology; American University of Beirut Medical Center; Beirut; Lebanon
2. Laboratory of Genetic Skin Diseases; Niigata University Graduate School of Medical and Dental Sciences; Niigata; Japan
Publisher
Wiley
Subject
Dermatology
Reference4 articles.
1. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1);Hamada;Hum Mol Genet,2002
2. The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1;Chan;Exp Dermatol,2007
3. Erosions and scars over the face, trunk, and extremities;Bahhady;Pediatr Dermatol,2009
4. Autoantibodies to extracellular matrix protein 1 in lichen sclerosus;Oyama;Lancet,2003
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1. Lipoid proteinosis: A clinical and molecular study in Egyptian patients;Gene;2017-09
2. The Extracellular Matrix Protein 1 (ECM1) in Molecular-Based Skin Biology;Textbook of Aging Skin;2016-09-29
3. Production and characterization of domain-specific monoclonal antibodies against human ECM1;Protein Expression and Purification;2016-05
4. A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature;Molecular Syndromology;2016-03-15
5. The Extracellular Matrix Protein 1 (ECM1) in Molecular-Based Skin Biology;Textbook of Aging Skin;2015
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