scholarly journals Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping

1995 ◽  
Vol 105 (3) ◽  
pp. 352-356 ◽  
Author(s):  
Helena Kuivaniemi ◽  
Gerard Tromp ◽  
Wilma F. Bergfeld ◽  
Marsha Kay ◽  
Thomas N. Helm
Keyword(s):  
Exon Skipping ◽  
Single Base Substitution ◽  
Base Substitution ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Single Base ◽  
Type Iv ◽  
Danlos Syndrome

Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV

1993 ◽  
Vol 46 (3) ◽  
pp. 278-283 ◽  
Author(s):  
Paolo Narcisi ◽  
Yuli Wu ◽  
Gerard Tromp ◽  
James J Earley ◽  
Allan J. Richards ◽  
...  
Keyword(s):  
Glutamic Acid ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Single Base ◽  
Type Iv ◽  
Col3a1 Gene ◽  
Danlos Syndrome

Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen ?2(I) chain

1991 ◽  
Vol 87 (2) ◽  
pp. 193-198 ◽  
Author(s):  
A. C. Nicholls ◽  
J. Oliver ◽  
D. V. Renouf ◽  
J. McPheat ◽  
A. Palan ◽  
...  
Keyword(s):  
Type I Collagen ◽  
Exon Skipping ◽  
Base Change ◽  
Type I ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Single Base ◽  
Single Base Change ◽  
Danlos Syndrome

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

Cerebrovascular complications in Ehlers-Danlos syndrome type IV

1995 ◽  
Vol 38 (6) ◽  
pp. 960-964 ◽  
Author(s):  
Kathryn N. North ◽  
David A. H. Whiteman ◽  
Melanie G. Pepin ◽  
Peter H. Byers
Keyword(s):  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Cerebrovascular Complications ◽  
Type Iv ◽  
Danlos Syndrome
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