PMID: 25178872

Gravina LP, Crespo C, Giugno H, Sen L, Chertkoff L, Mangano A, Castanos C
Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patients.
J Cyst Fibros. 2015 Jan;14(1):78-83. doi: 10.1016/j.jcf.2014.07.012. Epub 2014 Aug 29., [PubMed]
Sentences
No. Mutations Sentence Comment
116 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 25178872:116:61
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 25178872:116:53
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 25178872:116:45
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 25178872:116:38
status: NEW
view ABCC7 p.Gly542* details
 c Other severe mutations: 1717-1G-NA, G542X, N1303K, W1282X, G551D, DI507, 3659delC. Login to comment