Таблица APPm

МУТАЦИИ ГЕНА ПРЕДШЕСТВЕННИКА БЕТА-АМИЛОИДА (ПБА;APP) ------------------------------------------------------------------------ Экзон : Кодон : Замена : Замена : Литература

: :нуклеотидов:аминокислот: ------------------------------------------------------------------------

16 665 G - C glu-asp Peacock M.L.,1993a ;

Peacock M.L.,1994

16 670/671 G - T Mullan M.,1992

16 673 G - A ala-thr Peacock M.L.,1993b

16 677 A - G his-arg Janssen J.C.,2003

16 678 C - G asp-asn Wakutani Y.,2004

17 692 C - G ala-gly Hendriks L.,1992 ;

Roks G.,2000 ;

Kumar-Singh S.,2002

17 693 G - C glu-gln Levy E.,1990 ;

Van Broeckhoven C.,1990 ;

Fernandez-Madrid I.,1991

17 693 A - G glu-gly Kamino K.,1992 ;

Nilsberth C.,2000 ;

Nilsberth C.,2001

17 694 G - A asp-asn Grabowski T.J.,2001 ;

Greenberg S.M.,2003

17 713 G - A ala-thr Carter D.,1992

17 713 G - A ala-thr Rossi G.,2004 ;

Armstrong J.,2004

17 713 C - T ala-val Jones C.T.,1992 ;

Forsell C.,1995

17 714 A - G thr-ala Pasalar P.,2002 ;

Zekanowski C.,2003

17 714 C - T thr-ile De Jonghe C.,2000 ;

Kumar-Singh S.,2000 ;

De Jonghe C.,2001

17 715 G - A val-met Ancolio K.,1999 ;

Campion D.,1999

17 715 T - C val-ala De Jonghe C.,2001 ;

Beck J.A.,2002 ;

Cruts M.,2002 ;

Janssen J.C.,2003 ;

Zekanowski C.,2003

17 716 A - G ile-val Eckman C.B.,1997

17 716 T - C ile-val Terreni L.,2002

17 717 G - A val-ile Goate A.,1991 ;

Naruse S.,1991 ;

Hardy J.,1991 ;

Yoshioka K.,1991 ;

Fidani L.,1992 ;

Sorbi S.,1995b ;

Yoshizawa T.,1993 ;

Sorbi S.,1995 ;

Brooks W.S.,1995 ;

Matsumura Y.,1996 ;

Campion D.,1996 ;

Campion D.,1999 ;

Finckh U.,2000 ;

Beck J.A.,2002 ;

Janssen J.C.,2003

17 717 G - C val-leu Murrell J.R.,2000

17 717 G - T val-phe Murrell J.,1991

17 717 T - G val-gly Chartier-Harlin M.C.,1991

17 723 T - C leu-pro Kwok J.B.J.,1998 ;

Kwok J.B.J.,2000 ------------------------------------------------------------------------

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