ABCMdb

PMID: 22423042

Gonska T, Choi P, Stephenson A, Ellis L, Martin S, Solomon M, Dupuis A, Dorfman R, Zielenski J, Ooi CY, Weiser W, Durie PR, Tullis E
Role of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) in patients with chronic sinopulmonary disease.
Chest. 2012 Mar 15., [PubMed]

Sentences

No. Mutations Sentence Comment

66 ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Gly542* ABCC7 p.Ser1251Asn ABCC7 p.Arg75Gln ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Arg764* ABCC7 p.Arg75* ABCC7 p.Gln1291His ABCC7 p.Leu967Ser ABCC7 p.Asp579Gly ABCC7 p.Asp579Gly ABCC7 p.Val456Ala All P values are two-sided with a Table 2-CFTR Genotypes Identified in Subjects With Idiopathic Sinopulmonary Disease CF Causing/CF Causing CF Causing/CFTR Mutation CFTR Mutation/CFTR Mutation CF Causing/Unknown CFTR Mutation/Unknown F508del/A455E 3x F508del /D1152H 2x D579G/D579G 2x F508del /26x R764X/2 F508del/S1251N R75X/V456A 758delC/2 F508del/L967S 1716G.A/5T 1716G.A/2 F508del/5T R75Q/5T R117H (7T)/23x F508del/3212T.C 5T/23x G542X/D1152H 1717-1G.A/Q1291H Patients are grouped according to the identified CFTR alterations on allele 1/allele 2. Login to comment