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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.

We describe a novel germline mutation of BMPR1A in a family with juvenile polyposis and colon cancer. This mutation consists of two consecutive substitutions (735-6 TG>AT) that cause two nonsense mutations (Y245X, G246X), inherited in an autosomal dominant fashion, on one parental chromosome. This mutation caused protein truncation, and represents a novel case of consecutive nonsense mutations in human disease.[1]

References

  1. A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis. Howe, J.R., Chinnathambi, S., Calva, D., Bair, J., Pechman, B., Salamon, A., Tam, B., Simon, L. Cancer Genet. Cytogenet. (2008) [Pubmed]
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