PMID: 10971545

Lader AS, Prat AG, Jackson GR Jr, Chervinsky KL, Lapey A, Kinane TB, Cantiello HF
Increased circulating levels of plasma ATP in cystic fibrosis patients.
Clin Physiol. 2000 Sep;20(5):348-53., [PubMed]
Sentences
No. Mutations Sentence Comment
65 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10971545:65:49
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10971545:65:29
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10971545:65:92
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10971545:65:69
status: NEW
view ABCC7 p.Gly542* details
other CF mutations including R117H (n ˆ 3), G551D (n ˆ 1), G542X (n ˆ 1) and W1282X (n ˆ 1), had an encompassed plasma ATP level of 1á22 ‹ 0á22 lM (n ˆ 10), thus similar to control values (P<0á4). Login to comment
66 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10971545:66:24
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10971545:66:122
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10971545:66:103
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10971545:66:111
status: NEW
view ABCC7 p.Gly542* details
Of these genotypes, the G551D mutation had the highest plasma ATP concentration (2á25), while the W1282X, G542X, and R117H mutations had plasma ATP concentrations of 1á6, 0á75 and 0á68, respectively. Login to comment