Sökning: "Isabelle de Monestrol"

Hittade 1 avhandling innehållade orden Isabelle de Monestrol.

1. 1. Studies as a basis for a possible introduction of newborn screening for cystic fibrosis in Sweden

   Författare :Isabelle de Monestrol; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Background: Cystic fibrosis (CF) is the most common life-shortening autosomal recessive disease in Caucasians. It is a multi-organ disease that results from mutations in the gene that encodes the CF transmembrane conductance regulator (CFTR) protein, which regulates ion transport at epithelial surfaces. LÄS MER