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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Hum Genet
Prif Awduron: Boyden, Lynn M., Zhou, Jing, Hu, Ronghua, Zaki, Theodore, Loring, Erin, Scott, Jared, Traupe, Heiko, Paller, Amy S., Lifton, Richard P., Choate, Keith A.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2020
Pynciau:
Report
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg