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PMID: 7524913
Petreska L, Koceva S, Gordova-Muratovska A, Nestorov R, Efremov GD
Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin.
Hum Mol Genet. 1994 Jun;3(6):999-1000.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
5
ABCC7 p.Val1397Glu
X
ABCC7 p.Val1397Glu 7524913:5:115
status:
NEW
view ABCC7 p.Val1397Glu details
Here we report two new nucleotide substitutions of the CFTR gene, one in intron 5 (711+3A -G), and one in exon 23 (
V1397E
), named accordingly to the nucleotide assignment of the CFGAC (Personal comm., 1990).
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17
ABCC7 p.Val1397Glu
X
ABCC7 p.Val1397Glu 7524913:17:0
status:
NEW
view ABCC7 p.Val1397Glu details
V1397E
.
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26
ABCC7 p.Val1397Glu
X
ABCC7 p.Val1397Glu 7524913:26:35
status:
NEW
view ABCC7 p.Val1397Glu details
Identification of 711+3A-G (A) and
V1397E
(B) mutations by direct sequencing of DNA.
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