Add to ORKGBackground: Data on whether the phenotype of cystic fibrosis (CF) patients with compound hetero-zygocity for G551D (Gly551Asp) differs from patients with F508del (Phe508del) homozygous mutations is divergent. Aim: We hypothesized that CF patients with the G551D mutation would have less severe disease than F508del homozygotes. Design: We compared the clinical phenotype of adult patients with a G551D mutation with adult patients homozygous for F508del and those with the missense mutation R117H (Arg117His). Compound heterozygotes for the G551D and R117H were analysed separately. Methods: Data were collected for 101 adult C
Background: People with cystic fibrosis (pwCF) and a minimal function (MF) mutation are poorly chara...
The purpose of this study was to understand the various mutations of cystic fibrosis on chromosome s...
Background: Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transm...
BACKGROUND: Cystic fibrosis is the most common lethal autosomal recessive disorder among whites. Sev...
The members of the Cystic Fibrosis Genotype-Phenotype Consortium are listed in the AppendixBackgroun...
Background and methods. Both the clinical manifestations of cystic fibrosis and the genotypes of pat...
The glycine-to-aspartic acid missense mutation at codon 551 (G551D), which is within the first nucle...
Background: Discordant results were reported on the clinical expression of subjects bearing the D115...
Background: Discordant results were reported on the clinical expression of subjects bearing the D115...
To assess the relationship between the genotype and phenotype of adult CF patients we have selected ...
In this European study, the phenotype in 68 patients, homozygous or compound heterozygous for the G8...
Background: Cystic fibrosis (CF) is caused by compound heterozygosity or homozygosity of CF transmem...
Genotype-phenotype association in cystic fibrosis (CF) is difficult because of heterogeneous disease...
Few mutations in cis have been annotated for F508del homozygous patients. Southern Italy patients wh...
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Objective: To determine the relevance o...
Background: People with cystic fibrosis (pwCF) and a minimal function (MF) mutation are poorly chara...
The purpose of this study was to understand the various mutations of cystic fibrosis on chromosome s...
Background: Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transm...
BACKGROUND: Cystic fibrosis is the most common lethal autosomal recessive disorder among whites. Sev...
The members of the Cystic Fibrosis Genotype-Phenotype Consortium are listed in the AppendixBackgroun...
Background and methods. Both the clinical manifestations of cystic fibrosis and the genotypes of pat...
The glycine-to-aspartic acid missense mutation at codon 551 (G551D), which is within the first nucle...
Background: Discordant results were reported on the clinical expression of subjects bearing the D115...
Background: Discordant results were reported on the clinical expression of subjects bearing the D115...
To assess the relationship between the genotype and phenotype of adult CF patients we have selected ...
In this European study, the phenotype in 68 patients, homozygous or compound heterozygous for the G8...
Background: Cystic fibrosis (CF) is caused by compound heterozygosity or homozygosity of CF transmem...
Genotype-phenotype association in cystic fibrosis (CF) is difficult because of heterogeneous disease...
Few mutations in cis have been annotated for F508del homozygous patients. Southern Italy patients wh...
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Objective: To determine the relevance o...
Background: People with cystic fibrosis (pwCF) and a minimal function (MF) mutation are poorly chara...
The purpose of this study was to understand the various mutations of cystic fibrosis on chromosome s...
Background: Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transm...