The molecular anatomy of spontaneous germline mutations in human testes.

The frequency of the most common sporadic Apert syndrome mutation (C755G) in the human fibroblast growth factor receptor 2 gene (FGFR2) is 100-1,000 times higher than expected from average nucleotide substitution rates based on evolutionary studies and the incidence of human genetic diseases. To det...

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Bibliographic Details
Main Authors: Jian Qin, Peter Calabrese, Irene Tiemann-Boege, Deepali Narendra Shinde, Song-Ro Yoon, David Gelfand, Keith Bauer, Norman Arnheim
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2007-09-01
Series:PLoS Biology
Online Access:https://doi.org/10.1371/journal.pbio.0050224