PMID: 15709055

Sermet-Gaudelus I, Dechaux M, Vallee B, Fajac A, Girodon E, Nguyen-Khoa T, Marianovski R, Hurbain I, Bresson JL, Lenoir G, Edelman A
Chloride transport in nasal ciliated cells of cystic fibrosis heterozygotes.
Am J Respir Crit Care Med. 2005 May 1;171(9):1026-31. Epub 2005 Feb 11., 2005-05-01 [PubMed]
Sentences
No. Mutations Sentence Comment
56 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 15709055:56:103
status: NEW
view ABCC7 p.Asn1303Lys details
 Most of the mutations observed in heterozygous subjects were class II: ⌬F508 (n ϭ 40) and N1303K (n ϭ 2) mutations. Login to comment 57 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 15709055:57:97
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 15709055:57:105
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15709055:57:115
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Ser466*
X
ABCC7 p.Ser466* 15709055:57:90
status: NEW
view ABCC7 p.Ser466* details
 Ten had class I mutations: 3659delC, 1078delT, 3791delC, 1717-1GϾA, 2183AAϾG, S466X, W1282X, R553X, or G542X (n ϭ 2). Login to comment