Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses

Human Mutation,Volume 0, Issue ja, -Not available-.

Source: Human Mutation - October 20, 2018 Category: Genetics & Stem Cells Authors: Christel Vach é, Simona Torriano, Valérie Faugère, Nejla Erkilic, David Baux, Gema Garcia‐Garcia, Christian P. Hamel, Isabelle Meunier, Xavier Zanlonghi, Michel Koenig, Vasiliki Kalatzis, Anne‐Françoise Roux Source Type: research