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PMID: 10388465
Friedman KJ, Silverman LM
Cystic fibrosis syndrome: a new paradigm for inherited disorders and implications for molecular diagnostics.
Clin Chem. 1999 Jul;45(7):929-31.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
49
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10388465:49:89
status:
NEW
view ABCC7 p.Arg117His details
In the paper by Cohn et al. (19), a male patient with an aberrant genotype (⌬F508/
R117H
,7T,9T) had CBAVD and smooth P. aeruginosa in his sputum.
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