Identical mutations and phenotypic variation.

Abstract excerpt

The relationship between pathogenetic mutations and disease phenotype is becoming increasingly complex. Well-delineated clinical entities can be genetically heterogeneous, and mutations in a particular gene may result in fundamental clinical differences. Genetic heterogeneity includes mutations at different gene loci or allelic mutations within a single gene, resulting in a similar phenotype. However, one and the...

Topics

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

• Share to Genetic Diseases, Inborn
• Share to Genetic Variation
• Share to Mutation