ABCMdb

PMID: 14569807

Wang L, Freedman SD
Laboratory tests for the diagnosis of cystic fibrosis.
Am J Clin Pathol. 2002 Jun;117 Suppl:S109-15., [PubMed]

Sentences

No. Mutations Sentence Comment

59 ABCC7 p.Arg117His Some mutations (eg, R117H) are reported to be associated with widely variable clinical manifestations, from entirely healthy individuals to the typical multiorgan manifestations of CF. Therefore, the diagnosis of CF cannot be based solely on the identification of CFTR mutations. Login to comment 67 ABCC7 p.Arg334Trp ABCC7 p.Arg1158* ABCC7 p.Arg553Gln ABCC7 p.Val1212Ile For example, the complex allele R553Q-delta F508 has been shown to revert partially or ameliorate the phenotype of delta F508 mutation.15 Other revertants (delta F508-V1212I and R334W-R1158X) associated with mild or atypical CF have also been described.16,17 Nasal Potential-Difference Measurements This is a functional test for the CFTR gene product. Login to comment