|
Anomalie
|
|
|
Protéine
plasmatique N-30 |
Protéine
native N |
Gène
|
Statut |
Nom
/ Origine |
Type
|
Hémorragies
|
Thromboses
|
Auteurs
|
|
| Bb
(8) |
|
|
|
|
|
|
|
|
|
| |
|
IVS1+2076g a |
|
SRI LANKA |
a |
Oui |
Oui |
Dear A et coll. 2006
|
|
| Bb
(9) |
|
|
|
|
|
|
|
|
|
| Bb
(9-72)délétion |
|
exon 2 délété
|
|
NEW
YORK |
|
Non |
Oui |
Liu C Y et coll.
1985 |
|
| Bb
(14)ArgCys |
|
CGTTGT
|
|
CHRISTCHURCH
II |
|
Non |
Oui |
Brennan S O et coll.
1997 |
|
|
" |
|
CGTTGT
|
|
CHRISTCHURCH
III |
|
Non |
Oui |
Brennan S O et coll.
1997 |
|
|
" |
|
CGTTGT
|
|
IJMUIDEN |
|
Non |
Oui |
Koopman J et coll.
1992 |
|
|
" |
|
CGTTGT
|
|
LONDON
VIII ? |
|
Non |
Oui |
Vakalopoulou S et
coll. 1999 |
|
|
" |
|
CGTTGT
|
|
SEATTLE |
|
Non |
Non |
Pirkle H et coll.
1987 |
L |
|
" |
|
|
|
HANNOVER
XIX |
|
Oui |
|
Czwalinna A 2003
|
O |
| " |
|
CT |
|
VICENZA III |
|
Non |
Oui |
Castaman G et coll. 2005 |
|
| " |
|
|
heterozyg |
ST-GERMAIN III |
|
|
Oui |
de Raucourt E et coll. 2006 |
|
| Bb
(15)GlyCys |
|
GGTTGT
|
|
FUKUOKA
II |
|
Non |
Non |
Kamura T et coll.
1995 |
|
|
" |
|
|
|
ISE |
|
Non |
Non |
Yoshida N et coll.
1991 |
|
|
" |
|
2815GT |
|
KOSAI |
|
Non |
Oui |
Hirota-Kawadobora
M et coll. 2003 |
|
|
" |
|
2815GT |
|
OGASA |
|
Non |
Non
|
Hirota-Kawadobora
M et coll. 2003 |
|
| Bb
(17) |
R47stop
|
|
compound |
GENEVA |
a |
Oui
|
Oui
|
Vu D et coll. 2003
|
|
| Bb
(17)Argstop |
|
3282CT
|
|
IRAN
1 |
a |
Oui
|
Non
|
Asselta R et coll.
2002 |
|
|
" |
|
3282CT |
compound |
ITALIAN |
h |
Oui |
Non |
Asselta R et coll. 2004 |
|
|
" |
|
|
compound
|
FREIBURG I |
a |
|
|
Czwalinna A 2004 |
O |
|
" |
|
|
compound
|
SHANGAI |
a |
|
|
Fang Y et coll. 2005 |
|
| Bb (41)Tyrstop |
|
3356TG |
|
TOTTORI II |
h |
Oui |
Non |
Mimuro J et coll. 2003 |
|
| Bb
(44)ArgCys |
|
CGTTGT
|
|
NIJMEGEN |
|
Non |
Oui |
Koopman J et coll.
1992 |
|
| Bb
(53)Lysframeshift stop |
Lys83IlefsX3 |
c.248_249delAGinsT
|
homozyg |
SPAIN |
a |
Oui
|
|
Neerman-Arbez M et coll. 2007
|
|
| Bb (58)Lysframeshit-41aa-stop |
|
3404del A |
|
CHRISTCHURCH V |
h |
Oui |
Oui |
Brennan SO et coll. 2006 |
|
| Bb
(61)AspGly |
|
GATGGT
|
|
MIAMI |
|
|
|
Galanakis DK et coll.
1996 |
A |
| Bb
(68)AlaThr |
|
GCTACT
|
|
MILANO
II ou NAPLES |
|
Non |
Oui |
Koopman J et coll.
1992 |
|
|
" |
|
GCTACT
|
|
SHIZUOKA |
|
Non |
Non |
Yonekawa O et coll.
1997 |
A |
| Bb
(72) |
|
|
|
|
|
|
|
|
|
| |
|
|
|
|
|
|
|
|
|
| Bb
(73) |
|
|
|
|
|
|
|
|
|
| Bb (111)Ser del |
|
3590_3592del |
|
KYOTO IV |
|
Non |
Non |
Okumura N et coll. 2005
|
|
| Bb (118)MetLys |
M148K
|
4075TA |
|
LYON |
h |
Oui |
Oui |
Hanss M et coll. 2005 |
|
| Bb
(133) |
|
|
|
|
|
|
|
|
|
| |
|
|
|
|
|
|
|
|
|
| Bb
(134) |
|
|
|
|
|
|
|
|
|
| Bb
(148)LysAsn |
|
|
|
MERIVALE
II |
0
|
Non
|
Non
|
Maghzal GJ et coll.
2003 |
|
| Bb
(160)AsnSer |
|
TAATGA
|
|
NIIGATA |
|
Non |
Non |
Sugo T et coll. 1999
|
A |
| Bb (165)LeuPro |
|
CTTCCT |
|
(LONDON GC) |
|
Oui |
Non |
Mitchell M et coll. 2002 |
A |
| Bb
(166)ArgCys |
|
CGTTGT
|
|
LONGMONT |
|
Oui |
Non |
Lounes KC et coll.
2000 |
|
Bb (172)LeuGln |
|
5157TA |
compound |
ITALIAN |
h |
Oui |
Non |
Asselta R et coll. 2004 |
|
| Bb
(209) |
|
|
|
|
|
|
|
|
|
| |
|
|
|
|
|
|
|
|
|
| Bb
(210) |
|
|
|
|
|
|
|
|
|
| Bb
(236)Tyrstop |
|
5909TG |
|
LOZANNE |
|
Non
|
Oui
|
Hanss M et coll.
2003 |
|
| Bb (236)TyrCys |
|
5909AG |
compound |
PARIS IX |
h |
Oui |
Non |
Horellou MH et coll. 2006 |
|
| Bb
(247) |
|
|
|
|
|
|
|
|
|
| |
|
|
|
|
|
|
|
|
|
| Bb
(248) |
|
|
|
|
|
|
|
|
|
| Bb
(255)ArgCys |
|
|
|
HANNOVER
XV |
|
Oui |
Non |
Czwalinna A et coll.
2002 |
A |
| "
|
|
|
|
HANNOVER
XVI |
|
Non |
Oui |
Czwalinna A et coll.
2002 |
A |
Bb (255)ArgHis |
|
6654GA
|
|
(HANNOVER
XII) |
a |
Oui |
Non |
Czwalinna A et coll.
2001 |
A |
" |
|
|
|
MERIVALE |
h
|
Oui
|
Non
|
Homer V et coll.
2003 |
|
Bb (264)ArgGly |
|
c.882AG |
heterozyg
|
NOTTINGHAM II |
h |
|
|
Hill MB et coll. 2006 |
|
Bb (266)Trpstop |
Trp296X |
g.6687GA
|
homozyg
|
P3 ITALY (Sardinia) |
a
|
Oui
|
|
Monaldini L et coll. 2007
|
|
| Bb (289) |
|
|
|
|
|
|
|
|
|
|
|
|
IVS6-9de14 |
|
(LONDON MM) |
|
Oui |
Non |
Mitchell M et coll. 2002 |
A |
| Bb (290) |
|
|
|
|
|
|
|
|
|
| Bb
(289-290) |
|
IVS6+1GA
|
|
AVON |
h |
|
|
Brennan SO et coll.
2001 |
|
" |
|
IVS6+13CT
|
|
IRAN
3 |
a
|
|
|
Spena S et coll.
2003 |
|
| Bb
(316)AspTyr |
|
GACTAC
|
|
HAMILTON |
h |
Oui |
Non |
Brennan SO et coll.
2001 |
|
| Bb (326)TyrCys |
Y356C |
c.1067AG |
|
VILLEURBANNE II |
h |
Oui |
|
Hanss M et coll. 2007 |
|
| Bb
(335)AlaThr |
|
|
|
PONTOISE |
|
|
|
Kaudewitz H et coll.
1986 |
L |
| Bb (347)GlyArg |
|
|
|
(LONDON LB) |
|
Oui |
Non |
Mitchell M et coll. 2002 |
A |
| Bb (347)GlyArg |
|
|
compound |
SHANGAI |
a |
|
|
Fang Y et coll. 2005 |
|
| Bb
(353)LeuArg |
|
CTCCGC
|
|
Afibrinogène
MILANO |
a |
Oui |
Non |
Duga S et coll. 2000
|
|
| Bb
(385) |
|
|
|
|
|
|
|
|
|
| |
|
IVS7+1GT
|
|
ITALY
2 |
a |
|
|
Spena S et coll.
2002
|
|
|
|
|
IVS7+1GC |
compound |
PARIS IX |
h |
Oui |
Non |
Horellou MH et coll.2006 |
|
| Bb
(386) |
|
|
|
|
|
|
|
|
|
| Bb
(393) GlnStop |
Q423X |
nt.7893CT
|
|
patient A, VICENZA |
h
|
Oui |
Non |
Castaman G et coll. 2008
|
|
| Bb
(400) GlyAsp |
|
GA
|
|
Afibrinogène
MILANO II |
a |
Oui |
Non |
Duga S et coll. 2000
|
|
| Bb (402) TrpStop |
W432X
|
7919GA |
|
LYON II |
h |
Non |
Non |
Hanss M et coll. 2005 |
|
| Bb
(414) |
G444S
|
|
compound |
GENEVA |
a |
Oui
|
Oui
|
Vu D et coll. 2003
|
|
| Bb
(414) GlySer |
|
|
|
HANNOVER
XVIII |
|
Oui |
Non |
Czwalinna A et coll.
2002 |
A |
| " |
|
|
|
HANNOVER
XX |
|
Non |
Non |
Czwalinna A 2003
|
O |
| Bb (419) Glyframeshift-16aa-stop |
|
7972delG |
compound with 1441/K polumorphism |
ANHUI |
a |
Oui |
|
Xu XC et coll. 2006 |
|
| Bb
(434) GlyAsp |
|
8017GA
|
|
MUMBAI |
a |
|
|
Monaldini L et coll. 2006 |
|
| Bb
(437) |
W467X
|
TGGTAG
|
|
PALESTINIAN |
a |
Oui
|
Non
|
Neerman-Arbez M et
coll. 2003 |
|
Bb
(437) TrpGly |
|
8025TG |
homozyg |
IRAN 2 |
a |
|
|
Spena S et coll. 2003 |
|
| Bb
(440) TrpStop |
|
8035GA
|
|
MOUNT
EDEN |
h |
Oui |
Non |
Homer VM et coll.
2002 |
|
| Bb
(461) extension 12 résidus-stop |
|
8101AG
|
|
MAGDEBURG
II |
|
Oui |
Non |
Franke K et coll. 2002
|
A |
| Bb
(462) extension 12 résidus-stop |
|
TAGAAG
|
|
OSAKA
VI |
|
Oui |
Non |
Sugo T et coll 1999
|
A |
