The search for allelic variants that cause monogenic disorders or predispose to common, complex polygenic phenotypes

The search for the mutant genes for monogenic disorders has been a spectacular success. This was accomplished because of the mapping and sequencing of the human genome, the determination of the sequence variability, the collection of well-characterized families with mendelian disorders, the developm...

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Bibliographic Details
Main Author: Antonarakis, Stylianos E.
Format: Online
Language:English
Published: Les Laboratoires Servier 2001
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3181641/