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PMID: 19648261
Montgomery GS, Howenstine M
Cystic fibrosis.
Pediatr Rev. 2009 Aug;30(8):302-9; quiz 310.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
31
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 19648261:31:125
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 19648261:31:132
status:
NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 19648261:31:152
status:
NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 19648261:31:118
status:
NEW
view ABCC7 p.Gly542* details
Twelve of the most common mutations account for 85% of CF genotypes in North American patients and include deltaF508,
G542X
,
G551D
,
W1282X
, W1303K, and
R553X
.
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