Mutations in PERP cause dominant and recessive keratoderma

Investigation of genetic determinants of Mendelian skin disorders has substantially advanced understanding of epidermal biology. Here we show that mutations in PERP, encoding a crucial component of desmosomes, cause both dominant and recessive human keratoderma. Heterozygosity for a C-terminal trunc...

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Detalhes bibliográficos
Publicado no:J Invest Dermatol
Main Authors: Duchatelet, Sabine, Boyden, Lynn M., Ishida-Yamamoto, Akemi, Zhou, Jing, Guibbal, Laure, Hu, Ronghua, Lim, Young H., Bole-Feysot, Christine, Nitschké, Patrick, Santos-Simarro, Fernando, de Lucas, Raul, Milstone, Leonard M., Gildenstern, Vanessa, Helfrich, Yolanda R., Attardi, Laura D., Lifton, Richard P., Choate, Keith A., Hovnanian, Alain
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6586468/
https://ncbi.nlm.nih.gov/pubmed/30321533
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jid.2018.08.026
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