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A Homozygous Missense Mutation in TGM5 Abolishes Epidermal Transglutaminase 5 Activity and Causes Acral Peeling Skin Syndrome

Peeling skin syndrome is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. In the acral form, the dorsa of the hands and feet are predominantly affected. Ultrastructural analysis has revealed tissue separation at the junction between the granular cells and t...

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Detalhes bibliográficos
Main Authors: Cassidy, Andrew J., van Steensel, Maurice A. M., Steijlen, Peter M., van Geel, Michel, Velden, Jaap van der, Morley, Susan M., Terrinoni, Alessandro, Melino, Gerry, Candi, Eleonora, McLean, W. H. Irwin
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2005
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1285176/
https://ncbi.nlm.nih.gov/pubmed/16380904
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