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A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations
Two nucleotide substitutions in the human FGFR2 gene (C755G or C758G) are responsible for virtually all sporadic cases of Apert syndrome. This condition is 100–1,000 times more common than genomic mutation frequency data predict. Here, we report on the C758G de novo Apert syndrome mutation. Using da...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2474563/ https://ncbi.nlm.nih.gov/pubmed/18632557 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0801267105 |
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