211-108-4

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Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations.

Duangrurdee Wattanasirichaigoon et al.

Journal of human genetics, 51(11), 1006-1014 (2006-09-05)

X-linked agammaglobulinemia is caused by mutations in the human BTK gene, leading to recurrent pyogenic infections. We describe four novel and three known BTK-mutations in seven patients from seven (six Thai and one Burmese) families. All but one were sporadic

Functional characterization of aquaporin-4 specific T cells: towards a model for neuromyelitis optica.

Sudhakar Reddy Kalluri et al.

PloS one, 6(1), e16083-e16083 (2011-01-26)

Antibodies to the water channel protein aquaporin-4 (AQP4), which is expressed in astrocytic endfeet at the blood brain barrier, have been identified in the serum of Neuromyelitis optica (NMO) patients and are believed to induce damage to astrocytes. However, AQP4

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