PMID: 15463917

Ferec C, Le Marechal C, Audrezet MP, Farinha CM, Amaral MD, Gallati S, Sanz J, Steiner B, Mouchel N, Harris A, Schwarz MJ
Analysis of genomic CFTR DNA.
J Cyst Fibros. 2004 Aug;3 Suppl 2:7-10., [PubMed]
Sentences
No. Mutations Sentence Comment
97 ABCC7 p.Arg560Ser
X
ABCC7 p.Arg560Ser 15463917:97:224
status: NEW
view ABCC7 p.Arg560Ser details
ABCC7 p.Ala613Thr
X
ABCC7 p.Ala613Thr 15463917:97:231
status: NEW
view ABCC7 p.Ala613Thr details
ABCC7 p.Thr1299Ile
X
ABCC7 p.Thr1299Ile 15463917:97:238
status: NEW
view ABCC7 p.Thr1299Ile details
 More recently, the protocol proved to be able to detect mutations independent of their nature, frequency, and population specificity, which is also confirmed by the identification of novel mutations (i.e. 420del9, 1199delG, R560S, A613T, T1299I) in Swiss CF patients. Login to comment 98 ABCC7 p.Arg560Ser
X
ABCC7 p.Arg560Ser 15463917:98:224
status: NEW
view ABCC7 p.Arg560Ser details
ABCC7 p.Ala613Thr
X
ABCC7 p.Ala613Thr 15463917:98:231
status: NEW
view ABCC7 p.Ala613Thr details
ABCC7 p.Thr1299Ile
X
ABCC7 p.Thr1299Ile 15463917:98:238
status: NEW
view ABCC7 p.Thr1299Ile details
 More recently, the protocol proved to be able to detect mutations independent of their nature, frequency, and population specificity, which is also confirmed by the identification of novel mutations (i.e. 420del9, 1199delG, R560S, A613T, T1299I) in Swiss CF patients. Login to comment