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

Abstract

Purine nucleoside phosphorylase (PNP) deficiency is a rare immunodeficiency disease involving a T-lymphocyte-dysfunction that is fatal unless bone marrow transplantation is successful. In this study we undertook genetic analysis of a patient with PNP deficiency. Sequencing of the PNP gene, which is located on chromosome 14q13, of the patient led to the… (More)
DOI: 10.1007/s004390050787

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@article{Sasaki1998DirectEO, title={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}, author={Y. Sasaki and Mikiro Iseki and Shinya Yamaguchi and Yoshihiro Kurosawa and Tetsuya Yamamoto and Yuji Moriwaki and Tsuyoshi Kenri and Tsuguo Sasaki and Ryoko Yamashita}, journal={Human Genetics}, year={1998}, volume={103}, pages={81-85} }