PMID: 15469408

Sangiuolo F, D'Apice MR, Gambardella S, Di Daniele N, Novelli G
Toward the pharmacogenomics of cystic fibrosis--an update.
Pharmacogenomics. 2004 Oct;5(7):861-78., [PubMed]
Sentences
No. Mutations Sentence Comment
74 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15469408:74:65
status: NEW
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 At least one of the two CF mutations is 'mild` (e.g., IVS8-5T or Arg117His). Login to comment 190 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 15469408:190:97
status: NEW
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 Within this class, genistein and forskolin were able to increase chloride conductance of CFTR in G551D HeLa cells but not homozygous F508del cells. Login to comment 412 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 15469408:412:75
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15469408:412:65
status: NEW
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 31. Hamosh A, Rosenstein BJ, Cutting GR: CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells. Login to comment