Hereditary mixed polyposis syndrome is caused by a 40kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1

The hereditary mixed polyposis syndrome (HMPS) was first described about 50 years ago in a large Ashkenazi Jewish family from St Mark’s Hospital, London. The family showed apparent autosomal dominant inheritance of multiple types of colorectal polyp, with colorectal carcinoma in a high proportion of...

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Detalhes bibliográficos
Publicado no:Nat Genet
Main Authors: Jaeger, Emma, Leedham, Simon, Lewis, Annabelle, Segditsas, Stefania, Becker, Martin, Cuadrado, Pedro Rodenas, Davis, Hayley, Kaur, Kulvinder, Heinimann, Karl, Howarth, Kimberley, East, James, Taylor, Jenny, Thomas, Huw, Tomlinson, Ian
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4594751/
https://ncbi.nlm.nih.gov/pubmed/22561515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2263
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