Does the R117H mutation cause cystic fibrosis or not?
نویسندگان
چکیده
منابع مشابه
Molecular screening of R117H mutation in non caucasian cystic fibrosis patients in the north of Iran
Cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. These mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. In this study missense mutation R117H that associated with the different clinical symptoms wa...
متن کاملmolecular screening of r117h mutation in non caucasian cystic fibrosis patients in the north of iran
cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. these mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. in this study missense mutation r117h that associated with the different clinical symptoms wa...
متن کاملMutation in ∆f508 : a Major Cause of Cystic Fibrosis
Cystic fibrosis is the most common serious inherited disorder or autosomal recessive disorder. This disorder is appearing when the CFTR [cystic fibrosis transmembrane conductance regulator] gene mutation is takes place. The CFTR gene is responsible for the formation of CFTR protein which is normally required for the regulation of sweat, mucus and some other body fluids, CFTR protein act as a ch...
متن کاملMale infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H.
Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H Since the identification of the cystic fibrosis gene (CFTR),' more than 265 mutations have been described (CF Genetic Analysis Consortium, 1992). The most common disease causing mutation, AF508, occurs in approximately 70% of CF chromosomes and causes moderate to severe disease,' with var...
متن کاملThe very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.
BACKGROUND Cystic fibrosis (CF) is caused by compound heterozygosity or homozygosity of CF transmembrane conductance regulator gene (CFTR) mutations. Phenotypic variability associated with certain mutations makes genetic counselling difficult, notably for R117H, whose disease phenotype varies from asymptomatic to classical CF. The high frequency of R117H observed in CF newborn screening has als...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2008
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(08)60021-1