PMID: 23632450

Megiorni F, Cialfi S, Cimino G, De Biase RV, Dominici C, Quattrucci S, Pizzuti A
Elevated levels of miR-145 correlate with SMAD3 down-regulation in cystic fibrosis patients.
J Cyst Fibros. 2013 Dec;12(6):797-802. doi: 10.1016/j.jcf.2013.03.007. Epub 2013 Apr 28., [PubMed]
Sentences
No. Mutations Sentence Comment
33 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 23632450:33:99
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 23632450:33:260
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 23632450:33:122
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 23632450:33:266
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 23632450:33:145
status: NEW
view ABCC7 p.Gly85Glu details
 CF cases were F508del/F508del homozygotes (11/18) or carried at least one F508del variant: F508del/W1282X (3/18), F508del/N1303K (1/18), F508del/G85E (1/18), F508del/S549R(A N C) (1/18); one individual was homozygote for CFTR mutations different from F508del (R553X/N1303K). Login to comment