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

scholarly journals Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I

2002 ◽  
Vol 71 (3) ◽  
pp. 451-465 ◽  
Author(s):  
Kazuhiko Takahara ◽  
Ulrike Schwarze ◽  
Yasutada Imamura ◽  
Guy G. Hoffman ◽  
Helga Toriello ◽  
...  
Keyword(s):  
Acceptor Site ◽  
Type I ◽  
Syndrome Type ◽  
Site Mutation ◽  
Ehlers Danlos Syndrome ◽  
Exon Skip ◽  
Intron Removal ◽  
Danlos Syndrome

scholarly journals Ehlers-Danlos syndrome type VIIB. Morphology of type I collagen fibrils formed in vivo and in vitro is determined by the conformation of the retained N-propeptide

1993 ◽  
Vol 268 (21) ◽  
pp. 15758-15765
Author(s):  
D.F. Holmes ◽  
R.B. Watson ◽  
B. Steinmann ◽  
K.E. Kadler
Keyword(s):  
Type I Collagen ◽  
Collagen Fibrils ◽  
Type I ◽  
Syndrome Type ◽  
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 I: a clinical and ultrastructural study of a family with reduced amounts of collagen type III

1987 ◽  
Vol 117 (1) ◽  
pp. 89-97 ◽  
Author(s):  
A. PAEPE ◽  
A. NICHOLLS ◽  
P. NARCISI ◽  
F.DE KEYSER ◽  
J. QUATACKER ◽  
...  
Keyword(s):  
Ultrastructural Study ◽  
Collagen Type ◽  
Type I ◽  
Syndrome Type ◽  
Collagen Type Iii ◽  
Ehlers Danlos Syndrome ◽  
Type Iii ◽  
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

scholarly journals Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII.

1986 ◽  
Vol 261 (12) ◽  
pp. 5496-5503
Author(s):  
W G Cole ◽  
D Chan ◽  
G W Chambers ◽  
I D Walker ◽  
J F Bateman
Keyword(s):  
Amino Acids ◽  
Type I ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type I Procollagen ◽  
Danlos Syndrome
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