ABCMdb

PMID: 16202790

Sontag MK, Hammond KB, Zielenski J, Wagener JS, Accurso FJ
Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes.
J Pediatr. 2005 Sep;147(3 Suppl):S83-8., [PubMed]

Sentences

No. Mutations Sentence Comment

86 ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Gly551Ser ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Gly85Glu ABCC7 p.Pro67Leu ABCC7 p.Arg117Cys ABCC7 p.Ile336Lys The pancreatic sufficient mutations identified were 18981 5G>T, 278915G>A, A455E, G551S, G85E, I336K, P67L, R117C, R117H, R334W, R347P. Login to comment 95 ABCC7 p.Phe575Tyr A novel CF mutation (F575Y) was identified in the infant with the ambiguous sweat, and that infant is under care for CFTR-related disorders, but has not received a diagnosis of CF. Login to comment 129 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Arg117Cys ABCC7 p.Phe575Tyr Initial and repeat sweat chloride values and CFTR mutations in infants with borderline sweat test results Sweat Cl2 (mmol/L) Infant <6 months >6 months Genotype A 55 65 DF508/A455E B 50 - DF508/R117H C 45 77 DF508/R117C (7T/9T) D 33 26 DF508/- E 43 76 R117H/F575Y (7T,7T) F 43 25 312011G-A/- Figure 4. Login to comment