Log In
Username:
Password:
Forgot Password?
Search Related Resources
PubMed
OMIM
GeneReviews
OMMBID > Part 1: > Chapter 1.2: > Abstract
Back to TOC



Chapter 1.2: Mutation Databases: Overview and Catalogues

Contributors: Rania Horaitis, Charles R. Scriver, Richard G.H. Cotton

Abstract

Genetics is the study of inheritance, genomics is the study of genomes,1 and mutations, or nucleotide changes, occur at the interface between the two. Mutations are the source of genetic variation and diversity, and by their effect some are pathogenic while others are neutral. By definition, the majority of mutations documented in this eighth edition of The Metabolic and Molecular Bases of Inherited Disease are pathogenic.


The content above is only an excerpt.
For full access subscribe today or log into an existing user account below.

Purchase Chapter PDF
Access All of OMMBID
Already a user? Sign in here
Username:
Password:
Forgot your Username/Password?