Mutations in the 3 beta-hydroxysterol Delta(24)-reductase gene cause desmosterolosis, an autosomal recessive disorder of
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| Publication date | 2001 |
| Journal | American Journal of Human Genetics |
| Volume | Issue number | 69 |
| Pages (from-to) | 685-694 |
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| Document type | Article |
| Published at | https://doi.org/10.1086/323473 |
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