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Chediak-Higashi syndrome: a review of the past, present, and future
Since the initial description of Chediak-Higashi syndrome (CHS), over 75 years ago, several studies have been conducted to underscore the role of the lysosomal trafficking regulator (LYST) gene in the pathogenesis of disease. CHS is a rare autosomal recessive disorder, which is caused by biallelic m...
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| Publicat a: | Drug Discov Today Dis Models |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7793027/ https://ncbi.nlm.nih.gov/pubmed/33424983 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ddmod.2019.10.008 |
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