scholarly journals The Molecular Basis of Sjögren-Larsson Syndrome: Mutation Analysis of the Fatty Aldehyde Dehydrogenase Gene

1999 ◽  
Vol 65 (6) ◽  
pp. 1547-1560 ◽  
Author(s):  
William B. Rizzo ◽  
Gael Carney ◽  
Zhili Lin
Keyword(s):  
Aldehyde Dehydrogenase ◽  
Mutation Analysis ◽  
Molecular Basis ◽  
Fatty Aldehyde ◽  
Dehydrogenase Gene ◽  
Larsson Syndrome

A novel homozygous missense mutation in the fatty aldehyde dehydrogenase gene causes Sjögren-Larsson syndrome

2008 ◽  
Vol 52 (2) ◽  
pp. 136-138 ◽  
Author(s):  
Hajime Nakano ◽  
Eijiro Akasaka ◽  
Daiki Rokunohe ◽  
Shohei Yokoyama ◽  
Yuka Toyomaki ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Aldehyde Dehydrogenase ◽  
Fatty Aldehyde ◽  
Homozygous Missense Mutation ◽  
Dehydrogenase Gene ◽  
Larsson Syndrome

Sjögren–Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

1996 ◽  
Vol 12 (1) ◽  
pp. 52-57 ◽  
Author(s):  
Vincenzo De Laurenzi ◽  
Geraldine R. Rogers ◽  
David J. Hamrock ◽  
Lyuben N. Marekov ◽  
Peter M. Steinert ◽  
...  
Keyword(s):  
Aldehyde Dehydrogenase ◽  
Fatty Aldehyde ◽  
Dehydrogenase Gene ◽  
Larsson Syndrome

scholarly journals A gatekeeper helix determines the substrate specificity of Sjögren–Larsson Syndrome enzyme fatty aldehyde dehydrogenase

2014 ◽  
Vol 5 (1) ◽  
Author(s):  
Markus A. Keller ◽  
Ulrich Zander ◽  
Julian E. Fuchs ◽  
Christoph Kreutz ◽  
Katrin Watschinger ◽  
...  
Keyword(s):  
Substrate Specificity ◽  
Aldehyde Dehydrogenase ◽  
Fatty Aldehyde ◽  
Larsson Syndrome

Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome

2000 ◽  
Vol 130 (6) ◽  
pp. 782-789 ◽  
Author(s):  
Michèl A.A.P Willemsen ◽  
Johannes R.M Cruysberg ◽  
Jan J Rotteveel ◽  
Albert L Aandekerk ◽  
Peter H.M.F Van Domburg ◽  
...  
Keyword(s):  
Aldehyde Dehydrogenase ◽  
Macular Dystrophy ◽  
Fatty Aldehyde ◽  
Larsson Syndrome ◽  
Deficient Activity
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