Article
A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2010
Lucarelli Marco, Narzi Lorena, Pierandrei Silvia, Bruno Sabina Maria, Stamato Antonella, d'Avanzo Miriam, Strom Roberto, Quattrucci Serena
Abstract excerpt
PURPOSE: To evaluate the role of complex alleles, with two or more mutations in cis position, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in the definition of the genotype-phenotype relationship in cystic fibrosis (CF), and to evaluate the functional significance of the highly controversial L997F CFTR mutation. METHODS: We evaluated the diagnosis of CF or CFTR-related disorders in 12...
Topics
- Alleles
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Genotype
- Heterozygote
- Humans
- Mutation
- Phenotype