scholarly journals A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.

1993 ◽  
Vol 30 (5) ◽  
pp. 376-380 ◽  
Author(s):  
J Lloyd ◽  
P Narcisi ◽  
A Richards ◽  
F M Pope
Keyword(s):  
Splice Site ◽  
Exon Skipping ◽  
Donor Splice Site ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Donor Splice ◽  
Type Iv ◽  
Danlos Syndrome

Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers—Danlos syndrome type IV

1994 ◽  
Vol 3 (10) ◽  
pp. 1901-1902 ◽  
Author(s):  
Allan J. Richards ◽  
Paolo Narcisi ◽  
Carole Ferguson ◽  
Jan M. Cobben ◽  
F.Michael Pope
Keyword(s):  
Splice Site ◽  
Donor Splice Site ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Donor Splice ◽  
Type Iv ◽  
Danlos Syndrome ◽  
New Mutations

scholarly journals Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.

1991 ◽  
Vol 266 (8) ◽  
pp. 5244-5248
Author(s):  
H Vissing ◽  
M D'Alessio ◽  
B Lee ◽  
F Ramirez ◽  
P H Byers ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome ◽  
Procollagen Iii
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