utation Phenotype Reference(s)


"Skipping" of exon 6 OI I Korkko et al. Am J Hum Genet 62:98-110 1998


A-2->G intron 5


IVS5-2A>G



Skipping and mis- EDS VIIA Byers et al. Am J Med Genet 72:94-105 1997


splicing of exon 6 EDS VIIA Nicholls et al. J Med Genet 37:33e 2000 online


G-1->A intron 5


IVS5-1G>A



Skipping of exon 6 EDS VIIA Weil et al. EMBO J 8:1705-1710 1989


G->A 3' end of exon 6 EDS VIIA D'Alessio et al. Am J Hum Genet 49:400-406 1991


nt622


c.503G>A



Skipping of exon 8 OI III/IV Bateman et al. Biochem J 302: 729-735 1994



"Skipping" of exon 8 OI III/IV Schwarze et al. Am J Hum Genet 65:336-344 1999


G+1->C intron 8


resulting in several


splice products


IVS8+1G>C



Skipping of exon 10 OI IV Pepin et al. Prenat Diagn 17:559-570 1997


G-1->T intron 9


IVS9-1G>T



"Skipping" of exon 11 OI III Ward et al. Hum Mutat Mutation in Brief #414 2001 Online


IVS11+3-+6delGAGT



"Skipping" of exon 12 OI I Korkko et al. Am J Hum Genet 62:98-110 1998


G+1->A intron 12


IVS12+1G>A



Skipping of exon 14 OI II Bonadio et al. J Biol Chem 265:2262-2268 1990


G+5->A intron 14


IVS14+5G>A



"Skipping" of exon 16 OI I Ward et al. Hum Mutat Mutation in Brief #414 2001 Online


IVS15-33--44delCTGCCATCTCTT



"Skipping" of exon 17 OI I Willing et al. Am J Med Genet 45:223-227 1993


A-2->G intron 16


IVS16-2A>G



"Skipping" of exon 17 OI I Pepin et al. Prenat Diagn 17:559-570 1997


G+1->C intron 17


IVS17+1G>C



Use of cryptic splice OI I Willing et al. Am J Hum Genet 55:638-647 1994


site at G-8 exon 18 OI I Willing et al. Am J Hum Genet 55:638-647 1994


(nt 1312) due to


G+1->A intron 18


causing frameshift


and termination 32 aa


downstream


IVS18+1G>A



"Skipping" of exon 19 OI I Korkko et al. Am J Hum Genet 62:98-110 1998


G-1->A intron 18


IVS18-1G>A



"Skipping" of exon 19 OI I Benusiene and Kucinskas J Appl Genet 44:95-102 2003


IVS19+1G>A



"Skipping" of exon 20 OI IA Benusiene and Kucinskas J Appl Genet 44:95-102 2003


IVS20-2A>G



"Skipping" of exon 20 OI I Ward et al. Hum Mutat Mutation in Brief #414 2001 Online


IVS20+2T>C



"Skipping" of exon 21 OI I Korkko et al. Am J Hum Genet 62:98-110 1998


G-12->A intron 20


IVS19-12G>A



Skipping of exon 21 OI II Byers et al. V Int Conf on OI 1993


not defined



"Skipping" of exon 22 OI IB Benusiene and Kucinskas J Appl Genet 44:95-102 2003


IVS22-1G>T



"Skipping" of exon 22 OI I Korkko et al. Am J Hum Genet 62:98-110 1998


A+3->G intron 22


IVS22+3A>G



"Skipping" of exon 26 OI I Korkko et al. Am J Hum Genet 62:98-110 1998


G-1->A intron 25


IVS25-1G>A



Inclusion of intron 26 OI I Stover et al. J Clin Invest 92:1994-2002 1993


G+1->A intron 26 OI I Korkko et al. Hum Mutat 9:148-156 1997


IVS26+1G>A



Inclusion(?) of intron 26 OI I Korkko et al. Hum Mutat 9:148-156 1997


G+1->T intron 26


IVS26+1G>T



Skipping of exon 27 OI II Byers. Trends Genet 6:293-300 1990


A-2->C intron 26 OI II Pepin et al. Prenat Diagn 17:559-570 1997


IVS26-2A>C



"Skipping" of exon 28 OI IV Ward et al. Hum Mutat Mutation in Brief #414 2001 Online


IVS27-1G>C



Skipping of exon 30 OI III Wallis et al. Am J Hum Genet 45S:A228 1989


not defined



Skipping of exon 41 OI III Horwitz et al. Nat Med 5:309-313 1999


A+4->C intron 41 OI III Cabral et al. J Biol Chem 277:4215-4222 2002


IVS41+4A>C



Skipping of exon 43 OI II Byers. Trends Genet 6:293-300 1990


not defined



Skipping of exon 44 OI II Byers. Trends Genet 6:293-300 1990


C-3->? intron 43


IVS43-3C>



Skipping of exon 47 OI II Wallis et al. IV Int Conf on OI 55 1990


G+1->A intron 47


IVS47+1G>A



Skipping of exon 48 OI III/IV Pepin et al. Prenat Diagn 17:559-570 1997


C-3->G intron 47


IVS47-3C>G



Inclusion of intron 48 OI I Willing et al. Am J Hum Genet 55:638-647 1994


G+1->A intron 48


IVS48+1G>A







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