A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients

The remaining 28 patients screened were from unrelated families. [...]this novel mutant allele represents a frequency of 10.3% (6/(29 x 2)) in this Hispanic patient group. Since ATP hydrolysis at NBD2 terminates a burst of activities associated with opening the channel, loss of NBD2 would confer a l...

Ausführliche Beschreibung