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A FAMILY WITH TWO CONSECUTIVE NONSENSE MUTATIONS IN BMPR1A CAUSING JUVENILE POLYPOSIS
We describe a novel germline mutation in BMPR1A in a family with Juvenile Polyposis and colon cancer. This mutation is that of two consecutive substitutions (735-6 TG>AT) which cause two nonsense mutations (Y245X, G246X), inherited in an autosomal dominant fashion, on one parental chromosome. Thi...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2674273/ https://ncbi.nlm.nih.gov/pubmed/18262054 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cancergencyto.2007.11.001 |
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