Fenotype-genotype correlaties bij cystische fibrose: Effecten van verschillende mutaties in het cftr-gen op de effectiviteit van de chloridetransportfunctie

Cystic fibrosis is the most frequent severe autosomal recessive disorder in the Netherlands. The disease is caused by mutations in the cystic fibrosis conductance regulator (cftr) gene. The gene product is a chloride channel, and in addition regulates several other cellular functions, including the activity of other transport channels. The nature of cftr mutations determines in part the clinical characteristics of a particular cf patient.