exon type of mutation Nt No. Nt mutations AA No AA effect WB antibody clinical score Nationality author year
8 Deletion 768 19bp del 245 fs/Ter ND
WAS Netherlands Brooimans 2000
8 Deletion 789 G del 253 fs/260X ND
2 USA Lemahieu 1999
8 splicing defect -2,int8 a-g
splicing defect ND
4 USA Kwan/HMG 1995
8 splicing defect +1,int8 g-a
exon9 skipping ND
4 Italy Wengler 1995
8 splicing defect +1,int8 g-a
exon9 skipping ND
3 Germany Schindelhauer 1996
8 splicing defect +1,int8 g-a
exon9 skipping ND
2E Denmark Schwartz 1996
8 splicing defect +1,int8 g-c
splicing defect ND
WAS Argentina El-Hakeh 2002
8 splicing defect +1,int8 g-c 246 fs/246X Neg
0
Ab503 5A Japan Imai 2004
8 splicing defect +1,int8 g-a 259 fs/Ter Neg JD1 WAS UK MacCarthy-Morrogh 1999
8 splicing defect +1,int8 g-a 259 fs/Ter Neg JD1 WAS UK MacCarthy-Morrogh 1999
8 splicing defect +1,int8 gtga del 259 fs/Ter ND
WAS Netherlands Brooimans 2000
8 splicing defect +1,int8 gtga del 259 fs/Ter Neg 5A5 3 Japan Kawai 2002
8 splicing defect +1,int8 gtga del 259 fs/Ter Neg 5A5 3 Japan Kawai 2002
8 splicing defect +3,int8 t ins
splicing defect ND
4 Italy Wengler 1995
8 splicing defect +3,int8 t ins
splicing defect pos 11G8B7 3 Italy Allavena 2001
8 splicing defect +1-4,int8 gtga del

Neg
0
Ab503 4 Japan Imai 2004
8 splicing defect +1-4,int8 gtga del

Neg
0
Ab503 5M Japan Imai 2004
8 splicing defect +1-4,int8 gtga del

Neg
0
Ab503 4 Japan Imai 2004