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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 3),
G551D
(n 1),
G542X
(n 1) and
W1282X
(n 1), had an encompassed plasma ATP level of 1á22 0á22 lM (n 10), thus similar to control values (P<0á4).
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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.
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