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PMID: 17766193
Bangel N, Dahlhoff C, Sobczak K, Weber WM, Kusche-Vihrog K
Upregulated expression of ENaC in human CF nasal epithelium.
J Cyst Fibros. 2008 May;7(3):197-205. Epub 2007 Sep 4.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
55
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 17766193:55:130
status:
NEW
view ABCC7 p.Arg553* details
For qRT-PCR experiments we analysed five patients homozygous for ΔF508 and one with a compound heterozygoty for ΔF508/
R553X
(also used for molecular cloning).
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56
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 17766193:56:128
status:
NEW
view ABCC7 p.Arg553* details
For qRT-PCR experiments we analysed five patients homozygous for ƊF508 and one with a compound heterozygoty for ƊF508/
R553X
(also used for molecular cloning).
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164
ABCC7 p.Thr663Ala
X
ABCC7 p.Thr663Ala 17766193:164:249
status:
NEW
view ABCC7 p.Thr663Ala details
We found a similar situation for Table 2 Single nucleotide polymorphisms in the α-, β- and γ-hnENaC subunits from CF and non-CF tissue and appropriate references α-ENaC Reference β-ENaC Reference γ-ENaC Reference
T663A
[53,54] A314G [55] R178W P502A A614S [53,55,56] A336P [53,56] F339S A350T Y369S D375G S458R [55] Fig. 2. mRNA expression data for all three hnENaC subunits of CF patients.
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170
ABCC7 p.Thr663Ala
X
ABCC7 p.Thr663Ala 17766193:170:243
status:
NEW
view ABCC7 p.Thr663Ala details
We found a similar situation for Table 2 Single nucleotide polymorphisms in the b1;-, b2;- and b3;-hnENaC subunits from CF and non-CF tissue and appropriate references b1;-ENaC Reference b2;-ENaC Reference b3;-ENaC Reference
T663A
[53,54] A314G [55] R178W P502A A614S [53,55,56] A336P [53,56] F339S A350T Y369S D375G S458R [55] Fig. 2.
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214
ABCC7 p.Thr663Ala
X
ABCC7 p.Thr663Ala 17766193:214:23
status:
NEW
view ABCC7 p.Thr663Ala details
We identified a common
T663A
polymorphism within the C-terminus of the hnENaC α-subunit of CF and non-CF epithelia.
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221
ABCC7 p.Thr663Ala
X
ABCC7 p.Thr663Ala 17766193:221:23
status:
NEW
view ABCC7 p.Thr663Ala details
We identified a common
T663A
polymorphism within the C-terminus of the hnENaC b1;-subunit of CF and non-CF epithelia.
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