Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

European Journal of Human Genetics, Published online: 09 January 2020; doi:10.1038/s41431-019-0567-2Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

Source: European Journal of Human Genetics - January 8, 2020 Category: Genetics & Stem Cells Authors: Ivana Jedli čková Maxime Cadieux-Dion Anna P řistoupilová Viktor Str ánecký Hana Hartmannov á Kate řina Hodaňová Veronika Bare šová Helena H ůlková Jakub Sikora Lenka Noskov á Dita Mu šálková Petr Vyle ťal Jana Sovov á Patrick Cossette Source Type: research