ABCMdb

PMID: 19462466

Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B, Bassinet L, Fichou Y, des Georges M, Stanke F, De Boeck K, Dupont L, Balascakova M, Hjelte L, Lebecque P, Radojkovic D, Castellani C, Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, de Monestrol I, Girodon E, Ferec C, Claustres M, Tummler B, Cassiman JJ, Korbmacher C, Cuppens H
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
Hum Mutat. 2009 Jul;30(7):1093-103., [PubMed]

Sentences

No. Mutations Sentence Comment

137 ABCC7 p.Thr663Ala ABCC7 p.Thr663Ala Since p.T663A-SCNN1A is a frequent variant, each missense mutation was introduced on the p.T663A-SCNN1A background as found in the patient. Login to comment 138 ABCC7 p.Thr663Ala When the cis or trans configuration of the p.T663A-SCNN1A background could not be determined, the missense mutation was generated on both the p.T663-SCNN1A and p.A663-SCNN1A background. Login to comment 238 ABCC7 p.Gly542* The NPD was measured between a Ringer`s solution-filled exploring bridge on the nasal mucosa of the floor of the nasal cavity, and a reference bridge on the abraded skin of the forearm in a CF patient compound heterozygous for p.F508del and p.G542X in CFTR, a patient heterozygous for p.W493R-SCNN1A and p.F508del-CFTR, and a normal subject. Login to comment