3025-30-7

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Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.

Monia Ouederni et al.

Blood, 118(19), 5108-5118 (2011-09-13)

Inherited deficiency of major histocompatibility complex (MHC) class II molecules impairs antigen presentation to CD4(+) T cells and results in combined immunodeficiency (CID). Autosomal-recessive mutations in the RFXANK gene account for two-thirds of all cases of MHC class II deficiency.

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