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Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren–Larsson syndrome
Sjögren–Larsson syndrome (SLS; MIM#270200) is an autosomal recessive neurocutaneous disease caused by mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase (FALDH), a microsomal enzyme that catalyzes the oxidation of medium- and long-chain aliphatic aldehydes to fatty acids. We studied two...
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| Main Authors: | , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3057174/ https://ncbi.nlm.nih.gov/pubmed/17902024 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10038-007-0180-z |
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