Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient

Keyphrases

• Novel mutation 100%
• Purine nucleoside Phosphorylase 100%
• Amino Acids 66%
• Severe Combined Immunodeficiency 66%
• Exon 2 66%
• Enzymatic Activity 33%
• Polypeptide 33%
• Skipping 33%
• Autosomal Recessive 33%
• Immunodeficiency 33%
• Premature Stop Codon 33%
• Exon 3 33%
• Frameshift 33%
• Truncated Protein 33%
• Derived Allele 33%
• Single Patient 33%
• Exon 4 33%
• Purine nucleoside Phosphorylase Deficiency 33%

Biochemistry, Genetics and Molecular Biology

• Exon 100%
• Purine Nucleoside Phosphorylase 100%
• Amino Acids 50%
• Deficiency 50%
• Enzyme Activity 25%
• Allele 25%
• Intron 25%
• Autosomal Recessive Disorder 25%
• Stop Codon 25%
• Messenger RNA 25%

Immunology and Microbiology

• Exon 100%
• Severe Combined Immunodeficiency 50%
• Amino Acid 50%
• Enzyme Activity 25%
• Allele 25%
• Intron 25%
• Immunodeficiency 25%
• Autosomal Recessive Inheritance 25%
• Stop Codon 25%
• Purine Nucleoside Phosphorylase Deficiency 25%