ABCMdb

PMID: 15618592

Divac A, Nikolic A, Mitic-Milikic M, Nagorni-Obradovic L, Petrovic-Stanojevic N, Dopudja-Pantic V, Nadaskic R, Savic A, Radojkovic D
CFTR mutations and polymorphisms in adults with disseminated bronchiectasis: a controversial issue.
Thorax. 2005 Jan;60(1):85., [PubMed]

Sentences

No. Mutations Sentence Comment

158 ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Val920Leu One of the patients with DB was a compound heterozygote (V920L/R75Q) and one was heterozygous for R75Q. Login to comment 159 ABCC7 p.Arg75Gln Several groups have reported R75Q in patients with DB, CBAVD, chronic pancreatitis, asthma and chronic obstructive pulmonary disease.5 6 8-11 In contrast to previous reports,4-7 the frequency of CFTR mutations in patients with DB was not significantly higher than in our general population (2.17%, unpublished data, 2003). Login to comment 169 ABCC7 p.Arg117His 3 Shrimpton AE. R117H and IVS8-5T cystic fibrosis mutation detection by restriction enzyme digestion. Login to comment 188 ABCC7 p.Arg75Gln 11 Divac A, Nikolic A, Mitic-Milikic M, et al. High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease. Login to comment