Sökning: "Philip Curman"

Hittade 1 avhandling innehållade orden Philip Curman.

1. 1. Darier disease : more than skin deep

   Författare :Philip Curman; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Darier disease (DD) is a severe, inherited dermatological disorder with a characteristic clinical and histopathological appearance. It is caused by mutations in the ATP2A2 gene, encoding a Ca2+ pump in the endoplasmic reticulum, Sarco/Endoplasmic Reticulum Ca2+-ATPase 2 (SERCA2), which has been found to be an essential regulator of cellular Ca2+ homeostasis. LÄS MER