ABCMdb

PMID: 11491166

Wilschanski M, Famini H, Strauss-Liviatan N, Rivlin J, Blau H, Bibi H, Bentur L, Yahav Y, Springer H, Kramer MR, Klar A, Ilani A, Kerem B, Kerem E
Nasal potential difference measurements in patients with atypical cystic fibrosis.
Eur Respir J. 2001 Jun;17(6):1208-15., [PubMed]

Sentences

No. Mutations Sentence Comment

55 ABCC7 p.Gly85Glu - Clinical data of patients with atypical cystic fibrosis disease Age yrs Sex Genotype Sweat chloride mmol?L-1 PS/PI FEV1 % pred 22 M 3849z10kbCRT/405z1GRA 112 PS 60 21 M 3849z10kbCRT/405z1GRA 70 PS 43 19 M G85E/5T 57 PS 72 15 M 5T/? Login to comment 56 ABCC7 p.Asp1152His ABCC7 p.Asp1152His 110 PI 100 16 M 3849z10kbCRT/DF508 67 PS 69 39 M D1152H/D1152H 15 PS 100 52 M ?/? Login to comment 57 ABCC7 p.Trp1282* 112 PI 35 38 F 3849z10kbCRT/W1282X 100 PS 44 23 F DF508/? Login to comment 58 ABCC7 p.Trp1282* 80 PS 83 28 F 3849z10kbCRT/DF508 80 PS 88 16 M 3849z10kbCRT/W1282X 67 PS 95 FEV1: forced expiratory volume in one second; M: male; F: female; PS: pancreatic sufficiency; PI: pancreatic insufficiency; ? Login to comment 164 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asp1152His - Clinical parameters of patients referred with questionable cystic Fibrosis (CF) QCF-CF QCF-non-CF p-value Subjects n 24 46 Age yrs 12.17¡10.49 19.13¡11.9 0.013 Sweat chloride mmol?L-1 56¡17 39¡18 v0.001 FEV1 % pred 83.6¡19.7 83.7¡32.9 NS Positive sputum clutures# 4 9 NS CFTR mutations W1282X/5T(2) 5T/5T(1) v0.001} W1282X/3849z10kbC-wT(1) DF508(3) 0.04z DF508/5T(1) 5T(3) D1152H/5T(1) DF508(1) Male infertility 1 3 NS Pancreatic insufficiency 1 1 NS Data are preserted as mean¡SD. Login to comment