Human congenital diseases with mixed modes of inheritance have a shortage of recessive disease. A demographic scenario?

Abstract excerpt

An archive of congenital human diseases is presented, aiming to contain all those where recessive (biallelic) can be compared with X-linked and/or dominant (monoallelic) inheritance. A significant deficit of recessive inheritance is evident, both in disease inheritance and in contribution to inheritance per known disease gene. The deficit contrasts with expectation derived from the cell biology of mutation, and...

Topics

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

• Share to Demography
• Share to Genes, Dominant
• Share to Genes, Recessive