exon type of mutation Nt No. Nt mutations AA No AA effect WB antibody clinical score Nationality author year
9 Deletion 899 C del 290 fs/307X Neg Ab503 3 Japan Itoh 2000
9 Deletion 906 ACG-CA 291 fs/307X ND
5 USA Lemahieu 1999
9 Deletion 907 C del 291 fs/291X pos 11G8B7 2 Italy Facchetti 1998
9 Deletion 908 4bp del 292 fs/Ter ND
WAS Japan Ariga/99BJH 1999
9 Deletion 911 T del 292 fs/Ter ND
WAS Netherlands Brooimans 2000
9 Deletion 922 C del 296 fs/Ter ND
3 Japan Ariga/JI 2001
9 Deletion 925 G del 297 fs/Ter307 ND
WAS Argentina El-Hakeh 2002
9 Deletion 953 12bp del
A953G(ATGŮgtg)new spice site
307 del 4 aa ND
2 USA Zhu 1995
9 Insertion 854 G ins
fs/X Neg JD1 1 UK Qasim 2001
9 Insertion 854 G ins
fs/X Neg JD1 1 UK Qasim 2001
9 Insertion 959 38bp ins 309 fs/Ter320 ND
WAS Argentina El-Hakeh 2002
9 Insertion 965 114bp ins
t-c at +2nt of intron 9
311 ins 38 aa ND
4 USA Zhu 1995
9 Missense 843 T-C 270 Leu-Pro pos 3F3-A5 XLN Belgium Devriendt 2001
9 Missense 915 T-C 294 Ile-Thr ND
XLN+MDS UK(Zaire) Ancliff 2001
9 Missense 953 A-G 307 Met-Val pos Ab503 2 USA Kwan/HMG 1995
9 Nonsense 866 G-T 278 Gly-STOP ND
3 Germany Schindelhauer 1996
9 Nonsense 887 G-A 285 Glu-STOP ND
4 Italy Wengler 1995
9 Nonsense 923 C-T 297 Gln-STOP Neg Ab503 5 USA Zhu2 1997
9 splicing defect +2,int9 t-c
splicing defect ND
4 USA Kwan/HMG 1995
9 splicing defect +2,int9 t-a
splicing defect ND
3 USA Lemahieu 1999
9 splicing defect +2-5,int9 4bp del
splicing defect Neg H-250 WAS Italy Dupre 2002