Article
[A molecular study of the delta-F508 mutation and genetic analysis of a sample of cystic fibrosis patients].
Boletin medico del Hospital Infantil de Mexico - 1 Jul 1993
Orozco L, Lezana J L, Chávez M, Valdez H, Moreno M, Carnevale A
Abstract excerpt
The delta-F508 mutation was investigated in 39 index cases with cystic fibrosis (CF) using PCR-mediated site-directed mutagenesis. Eight patients were delta-F508 homozygous, 16 were delta-F508/unknown mutation compound heterozygous and 15 had unknown mutations in both alleles. Thus, delta-F508 was present in 41% of CF chromosomes and this frequency is lower than the observed among Northern European and North...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
