Search for dissertations about: "Pär-Johan Svensson"

Found 1 swedish dissertation containing the words Pär-Johan Svensson.

2. 1. Molecular studies on Hirschsprung disease and 'Ondine's curse'

   Author : Pär-Johan Svensson; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Hirschsprung disease; Congenital Central Hypoventilation Syndrome; neurocristopathy; mutation analysis; RET; CDNF; EDNRB; EDN-3; EDN-I;

   Abstract : This thesis is based on molecular studies of two diseases that arise from dysfunction of, defective migration or inappropriate apoptosis of neural crest derived cells: Hirschsprung disease (HSCR) and "Ondine's curse" (congenital central hypoventilation syndrome, CCHS). The neural crest (NC) is a condensation of pluripotent cells of ectodermal origin. READ MORE