PMID: 16157443

Stipoljev F, Vujisic S, Parazajder J, Hafner D, Jezek D, Sertic J
Cytogenetic analysis of azoospermic patients: karyotype comparison of peripheral blood lymphocytes and testicular tissue.
Eur J Obstet Gynecol Reprod Biol. 2006 Feb 1;124(2):197-203. Epub 2005 Sep 12., [PubMed]
Sentences
No. Mutations Sentence Comment
60 ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 16157443:60:163
status: NEW
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ABCC7 p.Glu60*
X
ABCC7 p.Glu60* 16157443:60:169
status: NEW
view ABCC7 p.Glu60* details
DNA samples were screened for the most common CFTR gene mutations and polythymidine tract variant within the intron 8 by: INNO-LIPA CFTR17 + Tn; exon 3: 394delTT, G85E, E60X; exon/intron 4: 621 + 1G ! Login to comment
61 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 16157443:61:3
status: NEW
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ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 16157443:61:35
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 16157443:61:28
status: NEW
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T, R117H; exon 7: 1078delT, R347P, R334W; exon 13: 2143delT, 2183AA ! Login to comment
63 ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 16157443:63:12
status: NEW
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A; exon 19: R1162X, 3659delC; intron 19: 3849 + 10 kb C ! Login to comment
64 ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 16157443:64:20
status: NEW
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T; intron 8/exon 9: A455E, 5T/7T/9T and LightCycler-based fluorescent-labeled oligonucleotide melting assays (DF508) [5]. Login to comment