Single base-pair substitutions in pathology and evolution: two sides to the same coin.

doi:10.1002/(SICI)1098-1004(1996)8:1<23::AID-HUMU3>3.0.CO;2-Q

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Article

Single base-pair substitutions in pathology and evolution: two sides to the same coin.

Human mutation - 1 Jan 1996

Krawczak M, Cooper D N

Abstract excerpt

Relative single base-pair substitution rates in human genes, derived from a collection of > 2,700 point mutations causing human genetic disease, were related to the results of an evolutionary gene/pseudogene comparison. At the mononucleotide level, notable differences between the two datasets wer...

Topics

Base Composition
Biological Evolution
Genetic Diseases, Inborn
Humans
Likelihood Functions
Mutation
Phenotype
Pseudogenes

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