Таблица CFTR sp
Таблица CFTR sp
3) сплайсинговые мутации
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Интрон: Донор/ :Локали-:Замена нук-: Литература
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IVS :акцеторн.: зация : леотидов :
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1 ds + 4 A - T Culard J.F.,1994
2 as - 3 C - T Bienvenu T.,1994c
2 ds + 1 G - C Tzetis M.,1997
2 ds + 12 T - C Malone G.,1998
3 as - 2 A - G El-Harith E.A.,1997
3 as - 1 G - C Bonizzato A.,1992
3 as - 1 G - T Bienvenu T.,1995b
3 as - 6 T - C Claustres M.,1993
3 ds + 3 A - C Macek
M.,1997a
3 ds + 4 A - G Ghanem N.,1994
3 ds + 1 G - A Dork
T.,1993a
4 as - 2 A - C Cuppens H.,1993
4 ds - 1 G - A Macek
M.,1997a
4 ds + 1 G - T Zielenski J.,1991a
Fonknechten N.,1992
4 ds + 2 T - C Malone G.,1998
4 ds + 2 T - G Claustres M.,1993
5 as - 1 G - T Casals T.,1997a
5 ds + 3 A - G Petreska L.,1994
5 ds + 3 A - T Casals T.,1997a
5 ds + 5 G - A Bisceglia L.,1994
5 ds + 1 G - T Zielenski J.,1991a
8 as - 2 A - C Dork
T.,1993a
9 as - 1 G - A Dork
T.,1993b
10 as - 1 G - A Kerem
B.,1990
10 as - 8 G - A Savov
A.,1994a
11 as - 1 G - A Chillon M.,1994b
11 ds + 1.6kb A - G Chillon M.,1995b
11 ds + 1 G - C Petreska L.,1996
12 ds + 3 A - C Mercier B.,1995b
12 ds + 3 A - G Casals T.,1997a
12 ds + 1 G - A Strong T.V.,1992
12 ds + 1 G - C Cuppens H.,1993
12 ds + 1 G - T Crawford J.,1995
12 ds + 5 G - T Zielenski J.,1995b
13 ds + 1 G - A Audrezet M.P.,1993a
16 as - 2 A - G Macek
M.,1997b
16 as - 2 A - T Ferec
C.,1995
16 as - 1 G - A Guillermit H.,1990
16 ds + 1 G - A Macek
M.,1997a
16 ds - 1 G - A Zielenski J.,1994
18 as - 2 A - G Dork
T.,1993b
18 as - 17 T - C Audrezet M.P.,1993a
18 ds - 1 G - A Zielenski J.,1994
19 as - 1 G - A Audrezet M.P.,1993a
19 as - 3 T - G Dork
T.,1993b
19 ds + 4 A - G Ronchetto P.,1992
19 ds + 10kb C - T Highsmith W.E.,1994
19 ds + 1 G - A Greil
I.,1993
19 ds - 1 G - A Cutting G.R.,1992
20 ds + 1 G - A Ferec
C.,1992
20 ds - 1 G - C Jones
C.T.,1992
23 ds + 1 G - A Fanen
P.,1992
23 ds + 1 G - T Dork
T.,1993b
6a ds + 1 G - A Casals T.,1997a
6b as - 3 T - G Macek
M.,1997a
14a as - 26 A - G Tzetis M.,1997
Amaral M.D.,2001
14a ds + 2 T - A Tzetis M.,1997
14b as - 2 A - G Marigo C.,1995
14b ds + 5 G - A Highsmith W.E.,1990
17a as - 2 A - G Reis
J.,1993
17a as - 4 A - G Kanavakis.,1995
17a as - 26 A - G Fanen
P.,1992
17a ds + 1 G - A Mercier B.,1994c
17a ds - 1 G - A Mercier B.,1993b
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