ABCMdb

PMID: 9580747

Wilmott RW
Making the diagnosis of cystic fibrosis.
J Pediatr. 1998 Apr;132(4):563-5., [PubMed]

Sentences

No. Mutations Sentence Comment

18 ABCC7 p.Arg117His The mutation R117H on a 9T background does not meet the criteria for a CF mutation, but in conjunction with the 5T allele it often produces a clinical picture of CF with pancreatic sufficiency. Login to comment 20 ABCC7 p.Arg117His However, the consensus panel determined that neither R117H alone, nor the presence of the 5T allele alone, is a CF mutation. Login to comment 31 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp Subsequent genetic analysis showed that both of these patients had a CF mutation on one chromosome (∆F508/G551D), with the 5T allele on the other one, indicating that this genotype may lead to a mild CF phenotype. Login to comment