ABCMdb

PMID: 16798544

Kerem E
Atypical CF and CF related diseases.
Paediatr Respir Rev. 2006;7 Suppl 1:S144-6. Epub 2006 Jun 5., [PubMed]

Sentences

No. Mutations Sentence Comment

42 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg553Gln One such mutation is the R553Q which when being present together with DF508 mutation on the same CFTR allele, is believed to have an attenuating effect on the clinical presentation of CF.9 Likewise, the 5T allele was shown to affect the disease severity of patients carrying the mutation R117H.10 In patients carrying the R117H mutation when the allele also contained the 5T variant the phenotype was mild CF whereas in patients carrying R117H together with the 7T variant the phenotype was CBAVD only. Login to comment