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Intragenic Deletion as a Novel Type of Mutation in Wolman Disease
Two clinically distinct disorders, Wolman disease (WD) and cholesteryl ester storage disease (CESD), are allelic autosomal recessive disorders caused by different mutations in lysosomal acid lipase (LIPA) which encodes for an essential enzyme involved in the hydrolysis of intracellular cholesteryl e...
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| Main Authors: | , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2011
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3781170/ https://ncbi.nlm.nih.gov/pubmed/21963785 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.09.006 |
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