PMID: 14534402

Boyle MP
Nonclassic cystic fibrosis and CFTR-related diseases.
Curr Opin Pulm Med. 2003 Nov;9(6):498-503., [PubMed]
Sentences
No. Mutations Sentence Comment
66 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 14534402:66:111
status: NEW
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 The polythymidine tract is also of particular importance in determining the clinical effect of the CF mutation R117H. Login to comment 67 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 14534402:67:51
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 14534402:67:113
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 14534402:67:152
status: NEW
view ABCC7 p.Arg117His details
 When paired in trans with another CF mutation, the R117H / 5T alleles will usually cause a classic CF phenotype, R117H / 7T will cause CBAVD alone, and R117H / 9T will not cause any disease [37]. Login to comment