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PMID: 15000840
De Semir D, Aran JM
Misleading gene conversion frequencies due to a PCR artifact using small fragment homologous replacement.
Oligonucleotides. 2003;13(4):261-9.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
53
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 15000840:53:231
status:
NEW
view ABCC7 p.Trp1282* details
We wished to improve the conditions to obtain maximal correction of the CFTR mutation F508del in our cellular model, the adeno-SV40-transformed bronchial epithelial cell line IB3.1, isolated from a CF patient with genotype F508del/
W1282X
(Zeitlin et al., 1991).
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57
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 15000840:57:74
status:
NEW
view ABCC7 p.Trp1282* details
Similarly as performed with the detection of the oligonucleotide-mediated
W1282X
correction frequency in IB3.1 cells (De Semir et al., 2003), we optimized the analysis of the percentage of F508del mutation repair in a heterozygous background using exponential PCR and genotyping.
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