ABCMdb

PMID: 24583165

Bonadia LC, de Lima Marson FA, Ribeiro JD, Paschoal IA, Pereira MC, Ribeiro AF, Bertuzzo CS
CFTR genotype and clinical outcomes of adult patients carried as cystic fibrosis disease.
Gene. 2014 May 1;540(2):183-90. doi: 10.1016/j.gene.2014.02.040. Epub 2014 Feb 26., [PubMed]

Sentences

No. Mutations Sentence Comment

53 ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Ile618Thr 2 8 I I s s a l C / I I s s a l C l e d 8 0 5 F / E 5 8 G 1 1 G542X/I618T Class I/Class IV 74.6 72.8 91 97 82.8 84.9 1 G542X/2183AA>G Class I/Class I 111 181 114 105 112.5 143 5 . Login to comment 76 ABCC7 p.Trp1282* 2 8 I I s s a l C / I I s s a l C l e d 8 0 5 F / l e d 8 0 5 F 1 2 W1282X/4428insGA Class I/Class IV or VI - 137.5 105.5 130.3 105.5 133.9 5 2 . Login to comment 82 ABCC7 p.Gly542* ABCC7 p.Pro205Ser 2 7 V I s s a l C / I I s s a l C H 2 5 1 1 D / l e d 8 0 5 F 2 2 F508del/1584-18672pb A>G Class II/Class V 63.7 90.7 61.5 93.1 62.6 91.9 2 P205S/G542X Class IV/Class I 102 136.2 93.1 112.3 97.55 124.25 6 . Login to comment