Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis
Boyden LM, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller AS, Lifton RP, Choate KA. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. American Journal Of Human Genetics 2020, 107: 158-163. PMID: 32516568, PMCID: PMC7332602, DOI: 10.1016/j.ajhg.2020.05.013.Peer-Reviewed Original ResearchConceptsDominant Mendelian disorderAutocatalytic cleavage siteMendelian disordersProtein residuesASPRV1Cleavage siteEpidermal differentiationMissense mutationsFilaggrin processingMutationsExome sequencingGenetic causeEpidermal barrier integrityEpidermal layerPalmoplantar keratodermaLamellar ichthyosisClose proximity