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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...
Autores principales: | Qin, Jian, Calabrese, Peter, Tiemann-Boege, Irene, Shinde, Deepali Narendra, Yoon, Song-Ro, Gelfand, David, Bauer, Keith, Arnheim, Norman |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2007
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1951783/ https://www.ncbi.nlm.nih.gov/pubmed/17760502 http://dx.doi.org/10.1371/journal.pbio.0050224 |
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