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Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
Disease-associated mutations affect GPR56 protein trafficking and cell surface expression.
Thalassemia in Sri Lanka: a progress report.
Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels.
A promoter within intron 35 of the human C4A gene initiates abundant adrenal-specific transcription of a 1 kb RNA: location of a cryptic CYP21 promoter element?
Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency.
Seven chromosome 22 STR polymorphisms.
Molecular basis for three X-linked immune disorders.
The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.