High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes

• 11 December 1997
• journal article
• research article
• Published by Springer Nature in Human Genetics
• Vol. 101  (3) , 365-370
• https://doi.org/10.1007/s004390050643

Abstract

Keywords

• CYSTIC FIBROSIS
• INTRONIC REGION
• SPLICE SITE MUTATION
• MILD PHENOTYPE
• MOLECULAR HETEROGENEITY