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Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient

Primary ImmunodeficiencyAutosomal Recessive InheritanceGenetic DisorderGeneticsImmunodeficienciesImmunologyAutoimmunityMolecular GeneticsDirect EvidenceDisease Gene IdentificationMedicineInborn Error Of ImmunityImmunodeficiency Patient