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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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Detalhes bibliográficos
Publicado no:Drug Discov Today Dis Models
Main Authors: Sharma, Prashant, Nicoli, Elena-Raluca, Serra-Vinardell, Jenny, Morimoto, Marie, Toro, Camilo, Malicdan, May Christine V., Introne, Wendy J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Acesso em linha: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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