Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads

Calpastatin is an endogenous specific inhibitor of calpain, a calcium-dependent cysteine protease. Here we show that loss-of-function mutations in calpastatin (CAST) are the genetic causes of an autosomal-recessive condition characterized by generalized peeling skin, leukonychia, acral punctate kera...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Lin, Zhimiao, Zhao, Jiahui, Nitoiu, Daniela, Scott, Claire A., Plagnol, Vincent, Smith, Frances J.D., Wilson, Neil J., Cole, Christian, Schwartz, Mary E., McLean, W.H. Irwin, Wang, Huijun, Feng, Cheng, Duo, Lina, Zhou, Eray Yihui, Ren, Yali, Dai, Lanlan, Chen, Yulan, Zhang, Jianguo, Xu, Xun, O’Toole, Edel A., Kelsell, David P., Yang, Yong
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4375526/
https://ncbi.nlm.nih.gov/pubmed/25683118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.12.026
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