ABCMdb

PMID: 14872121

Gilljam M, Bjorck E
Cystic fibrosis diagnosed in an elderly man.
Respiration. 2004 Jan-Feb;71(1):98-100., [PubMed]

Sentences

No. Mutations Sentence Comment

21 ABCC7 p.Pro99Leu ABCC7 p.Arg75Gln Genetic testing later confirmed two CFTR gene mutations, 394delTT and P99L, and the R75Q variant. Login to comment 33 ABCC7 p.Pro99Leu P99L is a missense mutation in exon 4 that was originally described in a patient with the 'F508 mutation on the other allele and presenting with very mild CF [7]. Login to comment 34 ABCC7 p.Arg75Gln R75Q was initially reported as an amino acid sequence polymorphism [8], but may be a mild missense mutation in exon 3 [Zielenski, pers. Login to comment 36 ABCC7 p.Arg75Gln This patient thus carried one severe and one mild mutation and the R75Q variant, with unknown linkage, in the region of the CFTR gene coding for the first membrane-spanning domain of the CFTR glycoprotein. Login to comment