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Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism

Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency syndromes. These a...

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Detalles Bibliográficos
Autores principales: Dotta, Laura, Parolini, Silvia, Prandini, Alberto, Tabellini, Giovanna, Antolini, Maddalena, Kingsmore, Stephen F, Badolato, Raffaele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3856608/
https://www.ncbi.nlm.nih.gov/pubmed/24134793
http://dx.doi.org/10.1186/1750-1172-8-168