ABCMdb

PMID: 12001283

Schaedel C, de Monestrol I, Hjelte L, Johannesson M, Kornfalt R, Lindblad A, Strandvik B, Wahlgren L, Holmberg L
Predictors of deterioration of lung function in cystic fibrosis.
Pediatr Pulmonol. 2002 Jun;33(6):483-91., [PubMed]

Sentences

No. Mutations Sentence Comment

88 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Thr338Ile ABCC7 p.Ser945Leu ABCC7 p.Arg117Cys ABCC7 p.Ile506Leu Furthermore, the inferred values for FEV1 and VC at age 5 years (the intercepts) were significantly lower TABLE 1- Allele Frequencies of 10 Most Common CFTR Mutations in Swedish CF Population Mutation Allele frequency (%) DF508 67.9 394delTT 7.1 3659delC 6.4 S945L 1.2 R117C 1.0 R117H 0.55 T338I 0.55 G551D 0.55 R553X 0.55 I506L 0.41 compared with those in the other CF patients (63.4% and 68.2% vs. 89% and 93.3%). Login to comment 121 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Gly1244Glu ABCC7 p.Gly1244Glu ABCC7 p.Leu206Trp ABCC7 p.Leu206Trp ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Thr338Ile ABCC7 p.Thr338Ile ABCC7 p.Ser549Ile ABCC7 p.Ser549Ile ABCC7 p.Ser549Ile ABCC7 p.Ser549Ile ABCC7 p.Ser945Leu ABCC7 p.Ser945Leu ABCC7 p.Arg117Cys ABCC7 p.Arg117Cys ABCC7 p.Tyr109Cys ABCC7 p.Tyr109Cys ABCC7 p.Asn1088Asp ABCC7 p.Asn1088Asp ABCC7 p.Tyr109Asn ABCC7 p.Tyr109Asn TABLE 3CFTR Mutations Associated With Pancreatic Sufficiency in Swedish CF Population Y109C S549I/S549I Y109N S945L R117C N1088D À R75Q R117H G1244E L206W 711 þ 3A !G T338I 1249 À 5A !G A455E 2789 þ 5G ! Login to comment 122 ABCC7 p.Ile506Leu A I506L 5T Except for the group of patients who had died or had been lung-transplanted, no significant differences in deterioration of VC were found between the various subgroups (data not shown). Login to comment