n Phenotype Reference(s)



Skipping of exon 7 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


G+1->C intron 7



Skipping of exon 7 EDS IV Lloyd et al. J Med Genet 30:376-380 1993


T+6->C intron 7 EDS IV Pepin et al. N Engl J Med 342:673-680 2000



Skipping of exon 8 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


G+5->A intron 8 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


EDS IV Pinto et al. N Engl J Med 343:366-368 2000



Skipping of exon 9 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


G+1->A intron 9



Skipping of exon 9 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


T+2->A intron 9



Skipping of exon 9 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


T+2->G intron 9



Skipping of exon 10 EDS IV Giunta and Steinmann Hum Mutat 16:176-177 (2000) Online


A-2->G intron 9


IVS9-2A>G



Skipping of exon 13 EDS IV Giunta and Steinmann Hum Mutat 16:176-177 (2000) Online


T+2->A intron 13


IVS13+2T>A



Skipping of exon 14 EDS IV Pope et al. Br J Dermatol 135:163-181 1996


A-2->C intron 13



Skipping of exon 14 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


G+3->T intron 14



Skipping of exon 16 Moderate Kuivaniemi et al. J Biol. Chem 265:12067-12074 1990


G+1->A intron 16 EDS IV



Skipping of exon 17 EDS IV Pepin et al. N Engl J Med 342:673-680 2000


G-1->C intron 16



Skipping of exon 17 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


G+1->A intron 17



Skipping of exon 17 EDS IV Chiodo et al. Biochem J 311:939-943 1995


T+2->G intron 17



Skipping of exon 17 EDS IV Giunta and Steinmann Hum Mutat 16:176-177 (2000) Online


T+2A+3>A+2G+3 intron17


IVS17+2-+3TAAG



Skipping of exon 18 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


G-1->C intron 17



Skipping of exon 20 EDS IV/ Kontusaari et al. Am J Hum Genet 47:112-120 1990


G+1->A intron 20 aortic Goldstein et al. Matrix 14:392-393 1994 (abst)


aneurysm Anderson et al. Hum Mutat 9:475 1997



Skipping of exon 24 EDS IV Pope et al. Br J Dermatol 135:163-181 1996


G+1->A intron 24 EDS IV Pope et al. Br J Dermatol 135:163-181 1996


EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


EDS IV White et al. J Med Genet 36:S98 Abstract 14.262 1999


EDS IV Pepin et al. N Engl J Med 342:673-680 2000


EDS IV Pepin et al. N Engl J Med 342:673-680 2000


eds IV Pepin et al. N Engl J Med 342:673-680 2000



Skipping of exon 25 EDS IV Lee et al. J. Biol. Chem. 266:5256-5259 1991


G+5->T intron 25



Skipping of exon 27 EDS IV Thakker-Varia et al. Hum Mutat 6:116-125 1995


G+5->A intron 27



Skipping of exon 27 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


G+5->T intron 27



Skipping of exon 28 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


G+1->C intron 28



Skipping of exon 30 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


G->A last nt of


exon 30



Skipping of exon 34 Severe EDS IV Kuivaniemi et al. J Invest Dermatol 105:352-356 1995


G->A last nt of


exon 34



Skipping of exon 34 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


G+1->A intron 34



Skipping of exon 34 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


T+2->C intron 34



Skipping of exon 36 EDS IV Giunta and Steinmann Hum Mutat 16:176-177 (2000) Online


G+1->C intron 36


IVS36+1G>C



Skipping of exon 37 EDS IV Richards et al. Hum Mol Genet 3:1901-1902 1994


insertion of TT after


T+2 intron 37



Skipping of exon 37 EDS IV Richards et al. Hum Mol Genet 3:1901-1902 1994


T+2->C intron 37 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997



Skipping of exon 37 EDS IV Wu et al. Hum Mutat 2:28-36 1993


G+5->T intron 37



Skipping of exon 38 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


G+5->A intron 38



Skipping of exon 38 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


G+5->T intron 38



Skipping of exon 41 EDS IV Cole et al. J Biol Chem 265: 17070-17077 1990


G+1->A intron 41 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997



Skipping of exon 42 Severe EDS IV Kuivaniemi et al. J Biol Chem 265:12067-12074 1990


G+1->A intron 42



Mis-splicing of exon 42 EDS IV Giunta and Steinmann Hum Mutat 16:176-177 (2000) Online


G+5->C intron 42


IVS42+5G>C


10 aa insertion


VNSSFYSTSQ



Skipping of exon 43 EDS IV Pope et al. Br J Dermatol 135:163-181 1996


G+1->A intron 43



Skipping of exon 43 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


T+2->C intron 43 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997



Skipping of exon 45 EDS IV Pope et al. Br J Dermatol 135:163-181 1996


G+1->A intron 45 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997



Skipping of exon 45 EDS IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


G+5->A intron 45



Skipping of exon 47 ESD IV Schwarze et al. Am J Hum Genet 61:1276-1286 1997


A-2->C intron 46







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