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The Molecular Basis of Sjögren-Larsson Syndrome: Mutation Analysis of the Fatty Aldehyde Dehydrogenase Gene
Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty aldehyde dehydrogenase (FALDH). To define the molecular defects causing SLS, we performed mutation analysis of the FALDH gene in probands fro...
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| Main Authors: | , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
The American
Society of Human Genetics
1999
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1288365/ https://ncbi.nlm.nih.gov/pubmed/10577908 |
| Oznake: |
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