Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Belloni, Elena, Ferrari, Maurizio, Millar-Jones, Lynne and Meredith, Alison Linda 1994. A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin. Human Molecular Genetics 3 (8) , pp. 1431-1432. 10.1093/hmg/3.8.1431

Full text not available from this repository.

Abstract

Cystic Fibrosis (CF) is the most common severe autosomal recessive disorder of the Caucasian population, with an estimated birth incidence of 1 in 2,500. Since the identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and the most common mutation (AF508) in 1989 (1,2,3), over 150 additional mutations have been characterised (4). We have recently described the molecular characterisation of 99.5% (365/367) of CF chomosomes in Wales (5). Here we report in detail the identification a novel mutation in the translation initiation codon of the CFTR gene, in a CF chromosome of Italian origin. We also describe the subsequent screening for this mutation in an Italian population.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: Oxford University Press
ISSN: 0964-6906
Last Modified: 25 Oct 2022 10:07
URI: https://orca.cardiff.ac.uk/id/eprint/61212

Citation Data

Cited 12 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item