PMID: 1377454

Fiedler MA, Nemecz ZK, Shull GE
Cloning and sequence analysis of rat cystic fibrosis transmembrane conductance regulator.
Am J Physiol. 1992 Jun;262(6 Pt 1):L779-84., [PubMed]
Sentences
No. Mutations Sentence Comment
487 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 1377454:487:79
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 1377454:487:72
status: NEW
view ABCC7 p.Ser549Asn details
ABCC7 p.Ala559Thr
X
ABCC7 p.Ala559Thr 1377454:487:90
status: NEW
view ABCC7 p.Ala559Thr details
 Cutting et al. (7) identified a cluster of mutations in NBFl (R533stop, S549N, G551D, and A559T), which are associated with the CF phenotype. Login to comment