More than 1,000 mutations have been identified in the cystic fibrosis (CF) transmembrane
regulator (CFTR) disease gene. The impact of these mutations on the protein and the wide …

Objective We evaluated the prevalence, Cystic Fibrosis Transmembrane Conductance
Regulator (CFTR) gene profile, clinical data, management and outcome for infants with a …

Background Autosomal recessive hypercholesterolaemia (ARH) is caused by mutations in a
putative adaptor protein called ARH. This recessive disorder, characterised by severe …

The objective was to determine the composition of the Cystic Fibrosis (CF) Population
attending specialist UK CF centres in terms of age, gender, age at diagnosis, genotype and …

Hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism of autosomal
recessive inheritance caused by pathogenic variants in the ALDOB gene that lead to …

Cystic fibrosis (CF) is a life-threatening and common genetic disorder. Cystic fibrosis
newborn screening (CF NBS) has been implemented in many countries over the last 30 …

Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene
(CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis …

Aim To prospectively evaluate the prevalence of CFTR gene mutations in acute pancreatitis,
chronic pancreatitis, and pancreatic cancer. Methodology Ninety-eight consecutive patients …

Germline mutations within the coding region of CDKN2A have been observed in affected
members of melanoma-prone families. G101W is the most common CDKN2A missense …

The peculiar position of Sardinia in the Mediterranean sea has rendered its population an
interesting biogeographical isolate. The aim of this study was to investigate the genetic …