Article
Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
Human mutation - 1 Jan 1998
Leoni G B, Pitzalis S, Tonelli R, Cao A
Abstract excerpt
In this paper, we describe a novel CF mutation consisting in a C-->T substitution at nucleotide 170 in exon 1 of CFTR gene, converting a serine residue into phenylalanine at position 12 (S13F) of the CFTR protein. This mutation was detected in a single patient of Sardinian descent in compound het...
Topics
- Child
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exons
- Heterozygote
- Humans
- Italy
- Phenotype
- Point Mutation