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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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Detalhes bibliográficos
Main Authors: Soo-Kyung Choi, Song-Ro Yoon, Peter Calabrese, Norman Arnheim
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science (PLoS) 2012-01-01
Colecção:PLoS Genetics
Acesso em linha:http://europepmc.org/articles/PMC3280958?pdf=render
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