ABCMdb

PMID: 24210900

Berkhout MC, van Rooden CJ, Rijntjes E, Fokkens WJ, el Bouazzaoui LH, Heijerman HG
Sinonasal manifestations of cystic fibrosis: a correlation between genotype and phenotype?
J Cyst Fibros. 2014 Jul;13(4):442-8. doi: 10.1016/j.jcf.2013.10.011. Epub 2013 Nov 5., [PubMed]

Sentences

No. Mutations Sentence Comment

163 ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Ser1251Asn ABCC7 p.Ser1251Asn ABCC7 p.Arg75Gln ABCC7 p.Gly970Arg ABCC7 p.Glu60* ABCC7 p.Glu528* Genotype Frequency; N (%) Class of mutation F508del/F508del 61 (58.7) I-III F508del/3849 + 10kbC 2 (1.9) IV-V F508del/N1303K 2 (1.9) I-III F508del/R1162X 2 (1.9) I-III F508del/A455E 12 (11.5) IV-V F508del/3272-26A N G 5 (4.8) IV-V F508del/E528X 1 (1.0) I-III F508del/S1251N 3 (2.9) IV-V F508del/R75Q 1 (1.0) IV-V F508del/G542X 2 (1.9) I-III F508del/1717-1G N A 1 (1.0) I-III F508del/Ser489X 1 (1.0) I-III F508del/4382delA 1 (1.0) -a F508del/L1077 1 (1.0) I-III F508del/1813insC 1 (1.0) -b A455E/S1251N 1 (1.0) IV-V A455E/E60X 1 (1.0) IV-V 3272-26A N G/G970R 1 (1.0) IV-V 3272-26A N G/R1162X 1 (1.0) IV-V F508del/UNK 2 (1.9) -c R117H-7T/UNK 1 (1.0) -d UNK/UNK 1 (1.0) -e Total 104 (100.4) One patient with pancreatic sufficiency and diagnosed at 46 years of age (class IV-V). Login to comment