PMID: 10844532

Moss RB, Hsu YP, Olds L
Cytokine dysregulation in activated cystic fibrosis (CF) peripheral lymphocytes.
Clin Exp Immunol. 2000 Jun;120(3):518-25., [PubMed]
Sentences
No. Mutations Sentence Comment
30 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10844532:30:188
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10844532:30:259
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 10844532:30:169
status: NEW
view ABCC7 p.Gly85Glu details
 Except for one patient who was heterozygous for G542x, the remainder (50%) were heterozygous for dF508, with other identified mutations including 3659delC (n ˆ 1), G85E (n ˆ 2), W1282X (n ˆ 1), 1898 1 1 (n ˆ 1), 2184delA (n ˆ 1), and G542X (n ˆ 1); six patients carried an unidentified mutation at the second allele. Login to comment