Sökning: "Pär-johan Svensson"

Hittade 1 avhandling innehållade orden Pär-johan Svensson.

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

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

   Sammanfattning : 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. LÄS MER