scholarly journals A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)

1996 ◽  
Vol 5 (11) ◽  
pp. 1733-1736 ◽  
Author(s):  
R. Wenstrup
Keyword(s):  
Splice Junction ◽  
Type I ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

scholarly journals The Gene Encoding Collagen α1(V) (COL5A1) Is Linked to Mixed Ehlers-Danlos Syndrome Type I/II

1996 ◽  
Vol 106 (6) ◽  
pp. 1273-1276 ◽  
Author(s):  
Nigel P. Burrows ◽  
Alan C. Nicholls ◽  
John R.W. Yates ◽  
Graham Gatward ◽  
Padmini Sarathachandra ◽  
...  
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Gene Encoding ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Morphometric Study of Cauliflower Collagen Fibrils in Ehlers-Danlos Syndrome Type I

1988 ◽  
Vol 8 (5) ◽  
pp. 453-457 ◽  
Author(s):  
Gérald E. Piérard ◽  
Trinh L ◽  
Claudine Piérard-Franchimont ◽  
Charles M. Lapiére
Keyword(s):  
Collagen Fibrils ◽  
Morphometric Study ◽  
Type I ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
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

Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers-Danlos syndrome type VII

1994 ◽  
Vol 3 (4) ◽  
pp. 358-364 ◽  
Author(s):  
Ken K. Y. Ho ◽  
Richard Y. C. Kong ◽  
Tamara Kuffner ◽  
Louis H. S. Hsu ◽  
Lily Ma ◽  
...  
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type I Procollagen ◽  
Danlos Syndrome
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