Таблица CFTR sp

 Таблица CFTR sp


                     3) сплайсинговые мутации


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  Интрон: Донор/  :Локали-:Замена нук-:          Литература               
:
    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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