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PMID: 7518920
Ellis LA, Taylor GR, Banks R, Baumberg S
MutS binding protects heteroduplex DNA from exonuclease digestion in vitro: a simple method for detecting mutations.
Nucleic Acids Res. 1994 Jul 11;22(13):2710-1.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
23
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 7518920:23:101
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 7518920:23:94
status:
NEW
view ABCC7 p.Arg553* details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 7518920:23:108
status:
NEW
view ABCC7 p.Ser549Asn details
Figures 1-4 illustrate the detection of four different mutations in CFTR exon 11 (1717-1 G-A,
R553X
,
G551D
,
S549N
) by this method.
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27
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 7518920:27:44
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 7518920:27:32
status:
NEW
view ABCC7 p.Arg553* details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 7518920:27:56
status:
NEW
view ABCC7 p.Ser549Asn details
Mutation wild type 1717-1 (G-A)
R553X
(C-T)
G551D
(G-A)
S549N
(G-A) Observed fragment size (blue) none 189 269 259 253 Distance from primer to mutation (blue) NA 184 256 250 245 Observed fragment size (green) none 326 246 256 263 Distance from primer to mutation (green) NA 308 236 242 247 *To whom correspondence should be addressed at: DNA Laboratory, Regional Genetics Service, Ashley Wing, St James's University Hospital, Leeds LS9 7TF, UK atUniversityofNorthCarolinaatChapelHillonOctober25,2012http://nar.oxfordjournals.org/Downloadedfrom Nucleic Acids Research, 1994, Vol. 22, No. 13 / 189 326 1. .
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