PMID: 20865746

Vermeulen F, Proesmans M, Feyaerts N, De Boeck K
Nasal potential measurements on the nasal floor and under the inferior turbinate: does it matter?
Pediatr Pulmonol. 2011 Feb;46(2):145-52. doi: 10.1002/ppul.21333. Epub 2010 Sep 23., [PubMed]
Sentences
No. Mutations Sentence Comment
86 ABCC7 p.Gly551Arg
X
ABCC7 p.Gly551Arg 20865746:86:127
status: NEW
view ABCC7 p.Gly551Arg details
 All but one of the CF patients carried two severe CFTR mutations, with the exception of one patients compound heterozygote for G551R/3849 þ 10 kB. The latter had a sweat chloride of 30 mEq/L, while the other patients had a median sweat chloride of 105 (range 86- 124 mEq/L). Login to comment