ABCMdb

PMID: 11056144

Lewis-Jones DI, Gazvani MR, Mountford R
Cystic fibrosis in infertility: screening before assisted reproduction: opinion.
Hum Reprod. 2000 Nov;15(11):2415-7., [PubMed]

Sentences

No. Mutations Sentence Comment

65 ABCC7 p.Gly85Glu ABCC7 p.Pro67Leu N. Engl. J. Med., 332, 1475-1480.∆F 508 G85E 296ϩ12T→C Daigneault, J., Aubin, G., Simard, F. and DeBraekeleer, M. (1992) TheN1303K E6OX 711ϩ1G→T incidence of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada).G542 L88s 711ϩ3A→G Hum. Biol., 64, 115-119.R117H P67L A455E 621ϩ16→T R75X 1461ins4 DeBraekeleer, M. and Daigneault, J. (1992) Spatial distribution of the ∆F508 mutation of cystic fibrosis. Login to comment 67 ABCC7 p.Arg117His ABCC7 p.Trp1282* Hum. Biol., 64, 167-174.1898ϩ1g→A R117H 2711∆T W1282X 441∆A W846X1 DeBraekeleer, M. and Ferec, C. Login to comment 68 ABCC7 p.Gly551Asp (1996) Mutations in the cystic fibrosis gene G551D 621ϩ1G→T 2789ϩ5G→A in men with congenital bilateral absence of the vas deferens. Login to comment 73 ABCC7 p.Arg347Pro ABCC7 p.Gly1123Arg ABCC7 p.Trp1098Arg R347P G1123R Dreyfus, D.H., Bethel, R. and Gelfand, E.W. (1996) Cystic fibrosis 1525-1G→A W1098R 3849ϩ10kBC→T mutation associated with severe pulmonary disease and V52OF 3495∆A male infertility. Login to comment 78 ABCC7 p.Gln493* ABCC7 p.Asp1152His Q493X D1152H Gregg, R.G., Wilfond, B.S., Farell, P.M. et al. (1993) Application of DNA 1717-1G→A 4326∆TC analysis in a population-screening program for neonatal diagnosis of cystic R56OT 4279insA fibrosis (CF): comparison of screening protocols. Login to comment 85 ABCC7 p.Asn1303Lys Science, 245, 1073-1080.3659∆C 3849ϩ10KbC→T Lissens, W., Mercier, B., Tournaye, H. et al. (1996) Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens andW1282X N1303K related clinical entities. Login to comment