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PMID: 7681631
Trapnell BC
Quantitative evaluation of gene expression in freshly isolated human respiratory epithelial cells.
Am J Physiol. 1993 Mar;264(3 Pt 1):L199-212.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
92
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 7681631:92:275
status:
NEW
view ABCC7 p.Arg553* details
This observation confirmed that the defect in CF, at least in patients with the most common gene defect AF 508,did not involve alteration in gene expression at the level of CFTR mRNA abundance as it appears to in cells from CF patients with other CFTR gene mutations such as
R553X
and Wl316X (32).
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