ABCMdb

PMID: 14718229

Pradal U, Piacentini GL
Cystic fibrosis patients, infertile men, and their noses.
Am J Respir Crit Care Med. 2004 Jan 15;169(2):141-2., 2004-01-15 [PubMed]

Sentences

No. Mutations Sentence Comment

85 ABCC7 p.Arg117His For most patients with congenital bilateral absence of the vas deferens, including those in the study by Gilljam and coworkers (2), the detection of mutations, such as R117H, which may be associated with a broad phenotype, does not help in characterizing the disease. Login to comment 86 ABCC7 p.Arg117His It should be noted that asymptomatic newborn babies that are compound heterozygotes for ⌬F508 (the main severe mutation in CF patients) and R117H are followed on a regular basis in CF clinics to monitor their clinical status properly (9). Login to comment 125 ABCC7 p.Arg117His Genetic counselling after carrier detection by newborn screening when one parent carries ⌬F508 and the other R117H. Login to comment