Табл. Col III AI m
Идентифицированные мутации в гене Col III AI
1) missense мутации
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Кодон:Замена нук-:Замена амино- : Литература :
: леотидов : кислот : :
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16 GGT-TGT Gly-Cys Smith
L.T.,1997
61 GGA-GAA Gly-Glu Smith
L.T.,1997
136 GGG-AGG Gly-Arg Tromp
G.,1993
400 GGG-GAG Gly-Glu Mackay
K.,1996
415 GGT-AGT Gly-Ser Anderson
D.W.,1997
499 GGT-GAT Gly-Asp McGrory
J.,1996a
501 CCT-ACT Pro-Thr Tromp
G.,1993
531 GCT-ACT Ala-Thr Zafarullah K.,1990
559 GGA-AGA Gly-Arg Bateman.,1997
589 GGG-GAG Gly-Glu Madhatheri S.L.,1994
595 GGT-TGT Gly-Cys Mackay
K.,1996
619 GGA-AGA Gly-Arg Kontusaari S.,1990a
637 GGC-AGC Gly-Ser Narcisi
P.,1994
661 GGG-AGG Gly-Arg Richards
A.J.,1993
742 GGT-GAT Gly-Asp Johnson
P.H.,1995
769 GGT-CGT Gly-Arg Smith
L.T.,1997
772 GGC-GAC Gly-Asp Johnson
P.H.,1995
790 GGT-AGT Gly-Ser Tromp
G.,1989a
793 GGA-GTA Gly-Val Tromp
G.,1995
847 GGA-GAA Gly-Glu Richards
A.J.,1992a
883 GGC-GAC Gly-Asp Tromp
G.,1989b
910 GGT-GTT Gly-Val Richards
A.J.,1991
934 GGA-GAA Gly-Glu McGrory
J.,1996b
1000 GGT-GTT Gly-Val Johnson
P.H.,1995
1003 GGT-GAT Gly-Asp Johnson
P.H.,1995
1006 GGA-GAA Gly-Glu Johnson
P.H.,1992
1009 GGC-GTC Gly-Val Nuytinck
L.,1994
1012 GGC-CGC Gly-Arg Smith
L.T.,1997
1018 GGC-GAC Gly-Asp Kontusaari S.,1992
1018 GGC-GTC Gly-Val Smith
L.T.,1997
1021 GGA-GAA Gly-Glu Narcisi
P.,1993
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