Табл. Col IV AV sp


                    3) сплайсинговые мутации
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  Интрон:  Донор/  :Локализация:Замена нук-:         Литература           
:
   IVS  :акцепторн.:           :  леотидов :                              
:
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    9        ds         +1         G - A          Knebelmann B.,1996 
   10        as         -2         T - A          Knebelmann B.,1996  
   11        as         -3         C - A          Boye E.,1995 
   12        as         -3         C - G          Knebelmann B.,1996   
   12        ds         +1         G - A          Heiskari N.,1996  
   14        ds         +1         G - A          Knebelmann B.,1996 
   15        as         -2         A - G          Heiskari N.,1996
   15        as         -1         G - C          Heiskari N.,1996
   15        ds         +1         G - A          Knebelmann B.,1996
   19        ds         +1         G - A          Renieri A.,1996
   19        ds         +2         T - G          Renieri A.,1996
   20        as         -2         A - G          Lemmink H.H.,1997
   24        ds         +1         G - T          Renieri A.,1996
   27        ds         -1         G - C          Kawai S.,1996  
   33        as         -1         G - T          Knebelmann B.,1996
   33        ds         +1         G - C          Knebelmann B.,1996
   38        ds         +1         G - C          Netzer K.O.,1993
   39        as         -1         G - A          Knebelmann B.,1996
   40        as         -2         A - T          Knebelmann B.,1996
   40        as         -1         G - A          Knebelmann B.,1996
   41        as         -1         G - A          Lemmink H.H.,1993 
   43        as         -2         A - G          Renieri A.,1996
   47        ds         +1         G - C          Nakazato H.,1995  
   48        ds         -1         G - A          Knebelmann B.,1996
   49        ds         +1         G - A          Knebelmann B.,1996  
   49        ds         -1         G - C          Nomura S.,1993  
   50        as         -2         A - G          Nakazato H.,1995  
   50        ds         -1         G - A          Knebelmann B.,1996  
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Смотрите также:

  • Альпорта синдром. Мутации генов Col IV AIII; Col IV AIV; Col IV AV