ABCC7 p.Gly239Arg
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PMID: 10445602
[PubMed]
Puechal X et al: "Increased frequency of cystic fibrosis deltaF508 mutation in bronchiectasis associated with rheumatoid arthritis."
No.
Sentence
Comment
129
In the DB group, two patients carried mutations: one was compound heterozygous (G542X/3849+ 10Kb CRT) and was diagnosed as suffering from an atypical CF with a normal sweat chloride concentration, while the other was heterozygous for the missense mutation G239R with normal values of both sweat chloride concentrations and nasal potential differences.
X
ABCC7 p.Gly239Arg 10445602:129:256
status: NEW128 In the DB group, two patients carried mutations: one was compound heterozygous (G542X/3849+ 10Kb CRT) and was diagnosed as suffering from an atypical CF with a normal sweat chloride concentration, while the other was heterozygous for the missense mutation G239R with normal values of both sweat chloride concentrations and nasal potential differences.
X
ABCC7 p.Gly239Arg 10445602:128:256
status: NEW