PMID: 17287432

Jouret F, Bernard A, Hermans C, Dom G, Terryn S, Leal T, Lebecque P, Cassiman JJ, Scholte BJ, de Jonge HR, Courtoy PJ, Devuyst O
Cystic fibrosis is associated with a defect in apical receptor-mediated endocytosis in mouse and human kidney.
J Am Soc Nephrol. 2007 Mar;18(3):707-18. Epub 2007 Feb 7., [PubMed]
Sentences
No. Mutations Sentence Comment
96 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 17287432:96:107
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 17287432:96:115
status: NEW
view ABCC7 p.Gly542* details
 Genotyping identified the ⌬F508 mutation in all patients (homozygous in 25 of 30; heterozygous with N1303K, G542X, or 3849 10 kb C⌸T in three of 30; second mutation not identified in two of 30). Login to comment