PMID: 7519885

Boucher RC, Knowles MR, Johnson LG, Olsen JC, Pickles R, Wilson JM, Engelhardt J, Yang Y, Grossman M
Gene therapy for cystic fibrosis using E1-deleted adenovirus: a phase I trial in the nasal cavity. The University of North Carolina at Chapel Hill.
Hum Gene Ther. 1994 May;5(5):615-39., [PubMed]
Sentences
No. Mutations Sentence Comment
172 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 7519885:172:197
status: NEW
view ABCC7 p.Gly551Asp details
 Expression of CFTR protein was a function of genotype where the most common mutation, AF508, is associated with markedly decreased levels of protein in all stmctures, and the less common mutation, G551D allele, is associated with normal distribution of apically localized protein. Login to comment 452 ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 7519885:452:42
status: NEW
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 Patients with known mild variants (RII7H; R75Q), especially those with pancreatic exocrine sufficiency. Login to comment