PMID: 11802242

Rosenstein BJ
Cystic fibrosis diagnosis: new dilemmas for an old disorder.
Pediatr Pulmonol. 2002 Feb;33(2):83-4., [PubMed]
Sentences
No. Mutations Sentence Comment
17 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11802242:17:142
status: NEW
view ABCC7 p.Arg117His details
 It is of note that a CF diagnosis in the mother described by Crowley and Bush1 was con®rmed by ®nding two CFTR mutations, DF508 and R117H (9t/7t). Login to comment 18 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11802242:18:51
status: NEW
view ABCC7 p.Arg117His details
 However, according to the CFF consensus statement, R117H is considered a CF-causing mutation only in association with the 5t-splice site variant.8 Therefore, according to Cystic Fibrosis Center, Johns Hopkins Hospital, Baltimore, Maryland. Login to comment