PMID: 12833419

Alper OM, Wong LJ, Hostetter G, Cook J, Tenenholz B, Hsu E, Woo MS
1154insTC is not a rare CFTR mutation.
Am J Med Genet A. 2003 Jul 15;120A(2):294-5., 2003-07-15 [PubMed]
Sentences
No. Mutations Sentence Comment
32 ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 12833419:32:97
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 12833419:32:104
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 12833419:32:115
status: NEW
view ABCC7 p.Ser549Asn details
 The frequency of this mutation was about 0.5%, higher than some of the mutations, such as DI507, R334W, R347P, and S549N that were in the routine screening panels [Cystic Fibrosis Genetic Analysis Consortium, 1994; Friedman et al., 1995]. Login to comment