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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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: 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
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Report
Acesso em linha: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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