Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma

The discovery of new genetic determinants of inherited skin disorders has been instrumental to the understanding of epidermal function, differentiation, and renewal. Here, we show that mutations in KDSR (3-ketodihydrosphingosine reductase), encoding an enzyme in the ceramide synthesis pathway, lead...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Boyden, Lynn M., Vincent, Nicholas G., Zhou, Jing, Hu, Ronghua, Craiglow, Brittany G., Bayliss, Susan J., Rosman, Ilana S., Lucky, Anne W., Diaz, Luis A., Goldsmith, Lowell A., Paller, Amy S., Lifton, Richard P., Baserga, Susan J., Choate, Keith A.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5473720/
https://ncbi.nlm.nih.gov/pubmed/28575652
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.05.003
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