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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4594751/ https://www.ncbi.nlm.nih.gov/pubmed/22561515 http://dx.doi.org/10.1038/ng.2263 |
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