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SJÖGREN-LARSSON SYNDROME: MOLECULAR GENETICS AND BIOCHEMICAL PATHOGENESIS OF FATTY ALDEHYDE DEHYDROGENASE DEFICIENCY
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase (FALDH), an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. Affected patients display ichthyosis, mental retardation and spast...
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2006
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| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1933507/ https://ncbi.nlm.nih.gov/pubmed/16996289 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2006.08.006 |
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