Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort

By |2018-01-23T12:10:59-05:00November 15th, 2017|Categories: DSF Research Review|Tags: , , |

(Yang et al. 2017) Most cases of mosaicism (where a mutation occurred shortly after fertilization and thus not all body cells carry it) found in parents of patients with DS are determined through blood samples. However, because different cells of the body are descended from different types of embryonic cells, the percentage of mutated SCN1A in [...]