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). Login to comment
17 ABCC7 p.Val1397Glu
X
ABCC7 p.Val1397Glu 7524913:17:0
status: NEW
view ABCC7 p.Val1397Glu details
V1397E. Login to comment
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. Login to comment