PMID: 7530908

Egan ME, Schwiebert EM, Guggino WB
Differential expression of ORCC and CFTR induced by low temperature in CF airway epithelial cells.
Am J Physiol. 1995 Jan;268(1 Pt 1):C243-51., [PubMed]
Sentences
No. Mutations Sentence Comment
33 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 7530908:33:145
status: NEW
view ABCC7 p.Trp1282* details
 Genotypically the cell line is a compound heterozygote containing the AF508 mutation and a nonsense mutation with a premature termination signal W1282X (unpublished observations). Login to comment