Litcius/Paper detail

Genotype–phenotype correlations and effect of mutation location in Japanese CADASIL patients

Mao Mukai, Ikuko Mizuta, Akiko Watanabe-Hosomi, Takashi Koizumi, Jun Matsuura, Ai Hamano, Hidekazu Tomimoto, Toshiki Mizuno

2020Journal of Human Genetics47 citationsDOI

Topics & Concepts

CADASILLeukoencephalopathyMissense mutationHyperintensityMedicineStroke (engine)Vascular dementiaGenotypeProbandPhenotypeMutationInternal medicineNeurologyWhite matterPathologyDementiaGeneticsBiologyDiseaseMagnetic resonance imagingGeneEngineeringRadiologyMechanical engineeringPsychiatryCerebrovascular and genetic disordersMetalloenzymes and iron-sulfur proteinsCell Adhesion Molecules Research