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. Login to comment