PMID: 19431193

Levy H, Murphy A, Zou F, Gerard C, Klanderman B, Schuemann B, Lazarus R, Garcia KC, Celedon JC, Drumm M, Dahmer M, Quasney M, Schneck K, Reske M, Knowles MR, Pier GB, Lange C, Weiss ST
IL1B polymorphisms modulate cystic fibrosis lung disease.
Pediatr Pulmonol. 2009 Jun;44(6):580-93., [PubMed]
Sentences
No. Mutations Sentence Comment
111 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 19431193:111:45
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 19431193:111:65
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 19431193:111:77
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 19431193:111:52
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 19431193:111:59
status: NEW
view ABCC7 p.Gly85Glu details
The other 12% of the CFTR mutations included G551D, G542X, G85E, W1282X, and N1303K. Login to comment