Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).

Abstract excerpt

Severe combined immunodeficiency (SCID) is a heterogeneous syndrome, due to X-linked and autosomal recessive defects. A significant proportion of the autosomal recessive forms of SCID are due to mutations at the adenosine deaminase (ADA) locus. Nine different mutations at the ADA locus, including...

Topics

• Adenosine Deaminase
• Base Sequence
• Cell Line
• Chromosomes, Human
• DNA
• DNA Mutational Analysis
• Exons
• Humans
• Molecular Sequence Data
• Mutation
• Polymerase Chain Reaction
• Polymorphism, Restriction Fragment Length
• Severe Combined Immunodeficiency