PMID: 15463804

Dodge JA, Dequeker E
CF or not CF? That is the question.
J Cyst Fibros. 2002 Mar;1(1):3-4., [PubMed]
Sentences
No. Mutations Sentence Comment
15 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15463804:15:224
status: NEW
view ABCC7 p.Arg117His details
 However, the question remains whether a given young adult with mild clinical features, an equivocal sweat test and a single 'severe` mutation (such as F508del), either alone or in combination with a 'mild` mutation (such as R117H, in its 7T or 9T version), or with 5T variant, should be diagnosed as having CF. Login to comment