Genotype is an important determinant of phenotype in adenosine deaminase deficiency.

Abstract excerpt

Adenosine deaminase (ADA) deficiency is associated with a broad clinical and mutational spectrum. Defining the relationship of genotype to phenotype among patients with different degrees of immunodeficiency has been complicated because the disease is rare, most mutations are 'private' and patients are often heteroallelic. In recent years, knowledge of ADA structure and systematic expression of mutant alleles have...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adenosine Deaminase
• Share to Amino Acid Sequence
• Share to Genetic Heterogeneity