Loss of function mutations in ATP2A2 and psychoses: A case report and literature survey
Nakamura T, Kazuno A, Nakajima K, Kusumi I, Tsuboi T, Kato T. Loss of function mutations in ATP2A2 and psychoses: A case report and literature survey. Psychiatry And Clinical Neurosciences 2016, 70: 342-350. PMID: 27106560, DOI: 10.1111/pcn.12395.Peer-Reviewed Original ResearchConceptsDarier's diseaseStop codonBipolar disorderGenome-wide association studiesEffects of loss-of-function mutationsMinigene splicing assayCase reports of patientsChromosome 12q23-24.1Mutations of ATP2A2Loss-of-function mutationsAutosomal dominant skin disorderAssociation of schizophreniaPathophysiology of psychosisPremature stop codonReports of patientsCausative genetic mutationsLGD mutationsComorbidity of psychosisATP2A2 mutationsSplice siteAssociation studiesSplicing assayCoding regionHeterozygous mutationsCase report
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