Beyond Mendel: an evolving view of human genetic disease transmission
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/nrg910.pdf
Reference124 articles.
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2. Dipple, K. M. & McCabe, E. R. B. Phenotypes of patients with 'simple' Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 66, 1729–1735 (2000).Illustrates the increasing levels of complexity that are seen in 'simple' Mendelian disorders and presents thresholds models to correlate mutations with phenotypes.
3. Dipple, K. M. & McCabe, E. R. B. Modifier genes convert 'simple' Mendelian disorders to complex traits. Mol. Genet. Metab. 71, 43–50 (2000).
4. Weiss, K. M. Is there a paradigm shift in genetics? Lessons from the study of human diseases. Mol. Phylogenet. Evol. 5, 259–265 (1996).
5. Jervis, G. A. Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system. Proc. Soc. Exp. Biol. Med. 82, 514–515 (1953).
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