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PMID: 9691989
Tebbutt SJ, Lakeman MB, Wilson-Wheeler JC, Hill DF
Genetic variation within the ovine cystic fibrosis transmembrane conductance regulator gene.
Mutat Res. 1998 May;382(3-4):93-8.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
7
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 9691989:7:28
status:
NEW
view ABCC7 p.Arg297Gln details
In addition to the mutation
R297Q
reported previously, we have found several interesting variants, including intronic DNA variants and exonic polymorphisms.
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93
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 9691989:93:7
status:
NEW
view ABCC7 p.Arg297Gln details
d;
R297Q
mutation reported previously 14 .
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129
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 9691989:129:24
status:
NEW
view ABCC7 p.Arg297Gln details
w x CF-causing mutation
R297Q
found in humans 19 w x and has previously been reported by our group 14 .
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130
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 9691989:130:0
status:
NEW
view ABCC7 p.Arg297Gln details
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 9691989:130:170
status:
NEW
view ABCC7 p.Arg297Gln details
R297Q
has since been found in two other ewes and all these animals have been involved in an embryo transfer programme in order to increase the number of animals carrying
R297Q
.
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131
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 9691989:131:140
status:
NEW
view ABCC7 p.Arg297Gln details
Several carrier ewes as well as a carrier ram have subsequently been generated, and will be mated in order to produce a lamb homozygous for
R297Q
.
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141
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 9691989:141:15
status:
NEW
view ABCC7 p.Arg297Gln details
Apart from the
R297Q
mutation, none of the ovine CFTR variants have equivalents in the human CFTR d; .
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