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Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia

Despite the importance of mutation in genetics, there are virtually no experimental data on the occurrence of specific nucleotide substitutions in human gametes. C>G transversions at position 755 of FGF receptor 2 (FGFR2) cause Apert syndrome; this mutation, encoding the gain-of-function substitu...

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Main Authors: Goriely, Anne, McVean, Gilean A. T., van Pelt, Ans M. M., O'Rourke, Anthony W., Wall, Steven A., de Rooij, Dirk G., Wilkie, Andrew O. M.
格式: Artigo
語言:Inglês
出版: National Academy of Sciences 2005
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1087921/
https://ncbi.nlm.nih.gov/pubmed/15840724
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0500267102
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