Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis

The discovery of genetic causes of inherited skin disorders has been pivotal to the understanding of epidermal differentiation, function, and renewal. Here we show via exome sequencing that mutations in ASPRV1 (aspartic peptidase retroviral-like 1) cause a dominant Mendelian disorder featuring palmo...

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Publicado en:Am J Hum Genet
Autores principales: Boyden, Lynn M., Zhou, Jing, Hu, Ronghua, Zaki, Theodore, Loring, Erin, Scott, Jared, Traupe, Heiko, Paller, Amy S., Lifton, Richard P., Choate, Keith A.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2020
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7332602/
https://ncbi.nlm.nih.gov/pubmed/32516568
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.05.013
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