Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
The genomic sequences encoding the human lysosomal acid lipase/cholesteryl esterase (sterol esterase; EC 3.1.1.13) have been isolated and sequenced, and the information has been used to identify mutations in both alleles of the gene from a patient with Wolman disease, an autosomal recessive lysosoma...
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| Udgivet i: | Proc Natl Acad Sci U S A |
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| Principais autores: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
National Academy of Sciences
1994
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC43441/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8146180/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.91.7.2718 |
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