scholarly journals A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.

1994 ◽  
Vol 93 (4) ◽  
pp. 1716-1721 ◽  
Author(s):  
V T Ha ◽  
M K Marshall ◽  
L J Elsas ◽  
S R Pinnell ◽  
H N Yeowell
Keyword(s):  
Compound Heterozygote ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Lysyl Hydroxylase ◽  
Hydroxylase Gene ◽  
Danlos Syndrome

A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers–Danlos syndrome type VI

1992 ◽  
Vol 2 (3) ◽  
pp. 228-231 ◽  
Author(s):  
James Hyland ◽  
Leena Ala-Kokko ◽  
Peter Royce ◽  
Beat Steinmann ◽  
Kari I. Kivirikko ◽  
...  
Keyword(s):  
Stop Codon ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Lysyl Hydroxylase ◽  
Hydroxylase Gene ◽  
Danlos Syndrome
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