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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Pubblicato in:Am J Hum Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2017
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Accesso online: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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