Add to ORKGCopyright © 2014 Vassos Neocleous et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4–11 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on one allele and p.Phe508del in exon 10 on the second allele. Both parents of Georgian and Ukrainian background had no personal or family history of the disease.The initial molecular diagnostic investigation identified the patient as homozygous for the p.Phe508del and not compatible with his parent’s genetic status.The possibility of nonpa...
PubMed ID: 8081388A 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among C...
kilobase deletion (CF40 kbdel4–10) removes exons 4 to 10 of the cystic fibrosis transmembrane conduc...
International audienceBACKGROUND: By performing extensive scanning of whole coding and flanking sequ...
We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4–11 in the cystic fibro...
We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4–11 in the cystic fibro...
We report the case of a patient with an apparent homozygosity for the D1152H mutation located in exo...
We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR)...
We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR)...
We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR)...
Background:Over 1900 mutations have been identified in the cystic fibrosis conductance transmembrane...
Copyright © 2015 Rossana Molinario et al. This is an open access article distributed under the Creat...
Cystic fibrosis (CF; OMIM number 219700) is an autosomal recessive disease caused by mutations in th...
Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulat...
The diagnosis of cystic fibrosis (CF) is commonly confirmed by molecular genetics with the presence ...
The gene responsible for cystic fibrosis, the most common severe autosomal recessive disorder, is lo...
PubMed ID: 8081388A 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among C...
kilobase deletion (CF40 kbdel4–10) removes exons 4 to 10 of the cystic fibrosis transmembrane conduc...
International audienceBACKGROUND: By performing extensive scanning of whole coding and flanking sequ...
We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4–11 in the cystic fibro...
We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4–11 in the cystic fibro...
We report the case of a patient with an apparent homozygosity for the D1152H mutation located in exo...
We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR)...
We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR)...
We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR)...
Background:Over 1900 mutations have been identified in the cystic fibrosis conductance transmembrane...
Copyright © 2015 Rossana Molinario et al. This is an open access article distributed under the Creat...
Cystic fibrosis (CF; OMIM number 219700) is an autosomal recessive disease caused by mutations in th...
Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulat...
The diagnosis of cystic fibrosis (CF) is commonly confirmed by molecular genetics with the presence ...
The gene responsible for cystic fibrosis, the most common severe autosomal recessive disorder, is lo...
PubMed ID: 8081388A 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among C...
kilobase deletion (CF40 kbdel4–10) removes exons 4 to 10 of the cystic fibrosis transmembrane conduc...
International audienceBACKGROUND: By performing extensive scanning of whole coding and flanking sequ...