Табл. F 9 mter
3) nonsense мутации
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Экзон :Кодон:Замена нук-:Замена амино-: Литература
: : леотидов : кислот :
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2 11 CAA-TAA gln-ter Winship P.R.,1991
2 26 GAA-TAA glu-ter Giannelli F.,1994
2 29 CGA-TGA arg-ter Green
P.M.,1989
Montandon A.J.,1989
Green P.M.,1990
Green
P.M.,1991b Green P.M.,1991
Koeberl
D.D.,1990 Koeberl D.D.,1990b
Lin
S.W.,1991
Thompson A.R.,1992
Green
P.M.,1992
Knobloch O.,1993
Bottema C.D.K.,1993
Gostout
B.,1993
Tartary
M.,1993
Saad
S.,1994
2 30 GAA-TAA glu-ter Giannelli F.,1996
2 33 GAA-TAA glu-ter Haris
I.I.,1994
3 42 TGG-TAG trp-ter Saad
S.,1994
3 44 CAG-TAG gln-ter Giannelli F.,1996
4 50 CAG-TAG gln-ter Ghanem
N.,1993
4 52 GAG-TAG glu-ter Bottema
C.D.K.,1991a
Knobloch O.,1993
4 71 TGT-TGA cys-ter Saad
S.,1994
4 72 TGG-TGA trp-ter Ghanem
N.,1993
4 73 TGT-TGA cys-ter Ghanem
N.,1993
5 95 TGC-TGA cys-ter Tam
B.M.,1991
Ketterling R.P.,1993
Saad
S.,1994
5 116 CGA-TGA arg-ter Montandon A.J.,1990a
Bottema
C.D.K.,1991b
Nielsen
L.N.,1992
Lin
S.W.,1993
Saad
S.,1994
6 145 TAT-TAG tyr-ter Thompson A.R.,1994
6 155 TAT-TAG tyr-ter Thompson A.R.,1994
6 162 GAA-TAA glu-ter Giannelli F.,1996
6 173 CAA-TAA gln-ter Giannelli F.,1994
6 191 CAA-TAA gln-ter Matsushita T.,1990
Aquilar-Martinez P.,1994b
6 194 TGG-TAG trp-ter Green
P.M.,1989
Green
P.M.,1991b Green P.M.,1991
Gostout
B.,1993
Saad
S.,1994
6 194 TGG-TGA trp-ter Saad
S.,1994
6 195 CAG-TAG gln-ter Thompson A.R.,1992b
7 207 GGA-TGA gly-ter Thompson A.R.,1992b
7 213 GAA-TAA glu-ter Giannelli F.,1996
7 215 TGG-TAG trp-ter Chen
S.H.,1991 Chen S.H.,1991a
7 224 GAA-TAA glu-ter Giannelli F.,1996
8 248 CGA-TGA arg-ter Green
P.M.,1989
Green P.M.,1990
Green
P.M.,1991b Green P.M.,1991
Green
P.M.,1992a Green P.M.,1992
Wang
N.S.,1990a
Koeberl D.D.,1990a
Tarnover A.,1991
Bottema
C.D.K.,1991b
Bottema C.D.K.,1993
Gostout
B.,1993
Poon
M.C.,1993
Tartary
M.,1993
Saad
S.,1994
8 252 CGA-TGA arg-ter Siguret
V.,1988
Green
P.M.,1991b Green P.M.,1991
Chen
S.H.,1989a
Taylor
S.A.M.,1990
Poon
M.C.,1987
Bottema
C.D.K.,1991a
Green
P.M.,1992a Green P.M.,1992
Figueiredo M.S.,1993
Ghanem
N.,1993
Ketterling R.P.,1993
Saad
S.,1994
Aquilar-Martinez P.,1994b
8 266 TAC-TAG tyr-ter Giannelli F.,1996
8 284 TAC-TAA tyr-ter Ketterling R.P.,1993
Tartary
M.,1993
8 294 GAA-TAA glu-ter Bottema
C.D.K.,1991a
Chen
S.H.,1991 Chen S.H.,1991a
Ketterling R.P.,1993
8 295 TAC-TAA tyr-ter Giannelli F.,1996
8 306 TAT-TAA tyr-ter Thompson A.R.,1991
8 306 TAT-TAG tyr-ter Giannelli F.,1996
8 310 TGG-TAG trp-ter Tarnover A.,1991
Wang
N.S.,1990a
Tartary
M.,1993
8 324 CAG-TAG gln-ter Bottema
C.D.K.,1991a
8 325 TAC-TAG tyr-ter Bottema
C.D.K.,1991a
8 325 TAC-TAA tyr-ter Gostout
B.,1993
8 333 CGA-TGA arg-ter Koeberl
D.D.,1990b
Montandon A.J.,1990b
Thompson A.R.,1992
Chen
S.H.,1991 Chen S.H.,1991a
Bottema
C.D.K.,1991a
David
D.,1993
Knobloch O.,1993
Lin
S.W.,1993
Ghanem
N.,1993
Gostout
B.,1993
Gostout
B.,1993
Saad
S.,1994
8 336 TGT-TGA cys-ter Giannelli F.,1996
8 338 CGA-TGA arg-ter Ludwig
M.,1989
Driscoll M.C.,1989a Driscoll M.C.,1989
Green P.M.,1990
Poon
M.C.,1987
Poon
M.C.,1993
Freedenberg D.L.,1989
Tam
B.M.,1991
Gostout
B.,1993
Tartary
M.,1993
Aquilar-Martinez P.,1994b
8 345 TAT-TAA tyr-ter Giannelli F.,1994
8 360 TCA-TGA ser-ter Ghanem
N.,1993
8 363 GGA-TGA gly-ter Saad
S.,1994
8 374 GAA-TAA glu-ter Saad
S.,1994
8 379 TTA-TGA leu-ter Knobloch O.,1993
8 385 TGG-TAG trp-ter Giannelli F.,1996
8 388 GAG-TAG glu-ter Giannelli F.,1996
8 407 TGG-TAG trp-ter Saad
S.,1994
8 411 AAA-TAA lys-ter Giannelli F.,1994
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4) silent мутации
-------------------------------------------------------------------------
Экзон :Кодон:Замена нук-:Замена амино-: Литература
: : леотидов : кислот :
-------------------------------------------------------------------------
5 107 GTT-GTA val-val Green
P.M.,1991b Green P.M.,1991
5 116 CGA-AGA arg-arg Saad
S.,1994
6 191 CAA-CAG gln-gln Thompson
A.R.,1992
7 227 GTT-GTC val-val Koeberl
D.D.,1989
Chen
S.H.,1991 Chen S.H.,1991a
8 364 GAT-GAC asp-asp Ludwig
M.,1992b
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