Towards the targeted management of Chediak-Higashi syndrome

Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive congenital immunodeficiency caused by mutations in CHS1, a gene encoding a putative lysosomal trafficking protein. In the majority of patients, this disorder is typically characterized by infantile-onset hemophagocytic lymphohistiocytosis...

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Detalles Bibliográficos
Autores principales: Lozano, Maria L, Rivera, Jose, Sánchez-Guiu, Isabel, Vicente, Vicente
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243965/
https://www.ncbi.nlm.nih.gov/pubmed/25129365
http://dx.doi.org/10.1186/s13023-014-0132-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243965/
https://www.ncbi.nlm.nih.gov/pubmed/25129365
http://dx.doi.org/10.1186/s13023-014-0132-6

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