ABCMdb

PMID: 10445601

Danner I, Boisseau P, Chailleux E, Escande D
Respiratory epithelial ion transport in patients with disseminated bronchiectasis.
Eur Respir J. 1999 Jun;13(6):1276-80., [PubMed]

Sentences

No. Mutations Sentence Comment

36 ABCC7 p.Gly551Asp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* This method allowed the detection of seven common mutations: 621+1GRT, DF508, G542X, N1303K, G551D, 1717-1GRA, and 3659delC [23]. Login to comment 58 ABCC7 p.Leu206Trp ABCC7 p.Leu206Trp Age yrs Mutations Sweat chloride mEq.L-1 PI/PS Heart±Lung Transplantation 1 22 DF508/DF508 88 PI No 2 21 DF508/3659delC NA PI Yes 3 26 DF508/DF508 NA PI Yes 4 24 DF508/DF508 190 PI No 5 28 DF508/DF508 NA PI No 6 23 DF508/DF508 NA PI Yes 7 61 DF508/L206W 100 PS No PI: pancreatic insufficiency; PS: pancreatic sufficiency; NA: not available. Login to comment 115 ABCC7 p.Leu206Trp This revealed DF508/L206W CFTR gene mutations. Login to comment 116 ABCC7 p.Leu206Trp This revealed DF508/L206W CFTR gene mutations. Login to comment 139 ABCC7 p.Leu206Trp L206W mutations. Login to comment 140 ABCC7 p.Leu206Trp ABCC7 p.Leu206Trp L206W mutations. Login to comment 141 ABCC7 p.Leu206Trp The L206W mutation, located in exon 6a, is usually associated with a mild CF phenotype (bronchiectasis or CBAVD alone) or even asymptomatic presentations of CF [12, 13]. Login to comment