Ehlers-Danlos syndrome type VI: Clinical manifestations of collagen lysyl hydroxylase deficiency

1989 ◽  
Vol 115 (3) ◽  
pp. 405-409 ◽  
Author(s):  
Richard J. Wenstrup ◽  
Saood Murad ◽  
Sheldon R. Pinnell
Keyword(s):  
Clinical Manifestations ◽  
Syndrome Type ◽  
Hydroxylase Deficiency ◽  
Ehlers Danlos Syndrome ◽  
Lysyl Hydroxylase ◽  
Danlos Syndrome

Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C)

1998 ◽  
Vol 290 (4) ◽  
pp. 181-186 ◽  
Author(s):  
J. Brinckmann ◽  
Yahya Açil ◽  
Sergej Feshchenko ◽  
Eva Katzer ◽  
Rolf Brenner ◽  
...  
Keyword(s):  
Point Mutation ◽  
Syndrome Type ◽  
Hydroxylase Deficiency ◽  
Ehlers Danlos Syndrome ◽  
Lysyl Hydroxylase ◽  
Danlos Syndrome

Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers–Danlos syndrome type VI

2000 ◽  
Vol 19 (1) ◽  
pp. 37-46 ◽  
Author(s):  
Heather N Yeowell ◽  
Jayme D Allen ◽  
Linda C Walker ◽  
Mayra A Overstreet ◽  
Saood Murad ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Lysyl Hydroxylase ◽  
Lysyl Hydroxylase 1 ◽  
Danlos Syndrome
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