Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis
Lynn M. Boyden, Jing Zhou, Rong‐Hua Hu, Theodore Zaki, Erin Loring, Jared Scott, Heiko Traupe, Amy S. Paller, Richard P. Lifton, Keith A. Choate
Topics & Concepts
FilaggrinIchthyosisBiologyMissense mutationGeneticsExome sequencingPhenotypeEpidermolysis bullosa simplexCongenital ichthyosisLoss functionMutantMutationEpidermolysis bullosaAtopic dermatitisGeneImmunologySkin and Cellular Biology ResearchWnt/β-catenin signaling in development and cancerPlant Reproductive Biology