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Large Contiguous Gene Deletions in Sjögren-Larsson Syndrome
Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. More than 70 mutations have been i...
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| Main Authors: | , , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2011
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3196763/ https://ncbi.nlm.nih.gov/pubmed/21684788 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.05.015 |
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