ABCMdb

ABCC7 p.Ile1023Arg

None has been submitted yet.

Publications

PMID: 22992393 [PubMed] Liu LC et al: "Cystic fibrosis: Experience in one institution."

No. Sentence Comment

5 Cases 2 and 3 had heterozygous c. 1898þ5 G->T and heterozygous p. I1023R (novel mutation) for the CFTR gene mutation. Login to comment
36 CF was suspected due to recurrent P aeruginosa pneumonia and pneumothorax and was confirmed by gene analysis with heterozygous c. 1898þ5 G->T and heterozygous p. I1023R mutation (novel mutation) at the age of 16 years. Login to comment
37 His mother had a heterozygous mutation in p. I1023R and his father had a heterozygous mutation in c. 1898þ5 G- >T (Fig. 2). Login to comment
47 CF was suspected and also confirmed by DNA analysis, with heterozygous c. 1898þ5 G->T and heterozygous p. I1023R mutations (Fig. 2). Login to comment
71 The gene mutation in Case 1 was 3849þ10kb C/T, which has an incidence of about 0.7% worldwide.5 Cases 2 and 3 had heterozygous c. 1898þ5 G- >T and heterozygous p. I1023R mutations. Login to comment
70 The gene mutation in Case 1 was 3849&#fe;10kb C/T, which has an incidence of about 0.7% worldwide.5 Cases 2 and 3 had heterozygous c. 1898&#fe;5 G- >T and heterozygous p. I1023R mutations. Login to comment

PMID: 23089694 [PubMed] Chen CH et al: "Acute appendicitis mimicking intestinal obstruction in a patient with cystic fibrosis."

No. Sentence Comment

28 Sweat chloride tests were remarkably high (>100 meq/l), but it was not until 5 years previously that a diagnosis of CF was confirmed by peripheral blood analysis of CFTR gene (heterozygous c.1898 &#fe; 5G > T and heterozygous p. I1023R). Login to comment