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Positive Selection for New Disease Mutations in the Human Germline: Evidence from the Heritable Cancer Syndrome Multiple Endocrine Neoplasia Type 2B

Multiple endocrine neoplasia type 2B (MEN2B) is a highly aggressive thyroid cancer syndrome. Since almost all sporadic cases are caused by the same nucleotide substitution in the RET proto-oncogene, the calculated disease incidence is 100–200 times greater than would be expected based on the genome...

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Detalles Bibliográficos
Autores principales: Choi, Soo-Kyung, Yoon, Song-Ro, Calabrese, Peter, Arnheim, Norman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3280958/
https://www.ncbi.nlm.nih.gov/pubmed/22359510
http://dx.doi.org/10.1371/journal.pgen.1002420