Article
Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.
American journal of human genetics - 1 Oct 1992
Aust M R, Andrews L G, Barrett M J, Norby-Slycord C J, Markert M L
Abstract excerpt
Purine nucleoside phosphorylase (PNP) deficiency is an inherited autosomal recessive disorder resulting in severe combined immunodeficiency. The purpose of this study was to determine the molecular defects responsible for PNP deficiency in one such patient. The patient's PNP cDNA was amplified by...
Topics
- Amino Acid Sequence
- B-Lymphocytes
- Base Sequence
- Blotting, Northern
- Blotting, Southern
- Cell Line
- Cloning, Molecular
- DNA
- Humans
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Purine-Nucleoside Phosphorylase
- RNA
- Recombinant Proteins
- Transfection