ABCMdb

PMID: 18304008

Riordan JR
CFTR function and prospects for therapy.
Annu Rev Biochem. 2008;77:701-26., [PubMed]

Sentences

No. Mutations Sentence Comment

418 ABCC7 p.Phe508Ser ABCC7 p.Phe508Ser ABCC7 p.Phe508Arg ABCC7 p.Phe508Arg However, this 710 Riordan was also found to be the case with the isolated domains containing either F508S or F508R substitutions (110). Login to comment 529 ABCC7 p.Trp1282* This study focused on a single stop mutation common in the Israeli population (W1282X), and the nasal potential difference measurements, all made at a single center, were statistically quite uniform. Login to comment 533 ABCC7 p.Trp1282* However, effectiveness even in patients with the W1282X mutation alone would represent a highly significant accomplishment if long-term delivery of an appropriate compound, producing clinical benefit without major side effects, can be achieved. Login to comment