PMID: 23781395

Milosevic K, Nikolic A, Divac Rankov A, Ljujic M, Nestorovic B, Radojkovic D
Analysis of CFTR Gene Variants in Idiopathic Bronchiectasis in Serbian Children.
Pediatr Allergy Immunol Pulmonol. 2013 Jun;26(2):93-98., [PubMed]
Sentences
No. Mutations Sentence Comment
3 ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 23781395:3:101
status: NEW
view ABCC7 p.Arg75Gln details
 Mutation c.1521_1523delCTT (F508del) was detected with an allelic frequency of 1.0%, and c.224G > A (R75Q) variant. Login to comment 89 ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 23781395:89:129
status: NEW
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 CFTR Alleles Detected in Children with Idiopathic Bronchiectasis Variant Alleles Number % F508del Mutant 1 1.0 Wild type 95 99.0 R75Q Mutant 1 1.0 Wild type 95 99.0 Tn polymorphism IVS8-5T 5 5.2 IVS8-7T 81 84.4 IVS8-9T 10 10.4 M470V M470 47 49.0 470V 49 51.0 CFTR, cystic fibrosis transmembrane conductance regulator. Login to comment 91 ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 23781395:91:121
status: NEW
view ABCC7 p.Arg75Gln details
 CFTR Genotypes Detected in Children with Idiopathic Bronchiectasis Genotype Number of patients % F508del 7T/9T M/V 1 2.1 R75Q 5T/7T M/V 1 2.1 - 5T/7T M/V 2 4.2 - 5T/9T V/V 1 2.1 - 5T/9T M/M 1 2.1 - 7T/9T M/M 4 8.3 - 7T/9T M/V 2 4.2 - 7T/9T V/V 1 2.1 - 7T/7T M/M 11 22.9 - 7T/7T M/V 11 22.9 - 7T/7T V/V 13 27.0 patients with bronchiectasis, future studies should encompass the screening of the entire CFTR gene. Login to comment