Title of article
A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis
Author/Authors
Howe، نويسنده , , James R. and Chinnathambi، نويسنده , , Sathivel and Calva، نويسنده , , Daniel and Bair، نويسنده , , Jennifer and Pechman، نويسنده , , Brenda and Salamon، نويسنده , , ءgnes and Tam، نويسنده , , Beatrix and Simon، نويسنده , , Lلszlَ، نويسنده ,
Issue Information
روزنامه با شماره پیاپی سال 2008
Pages
3
From page
52
To page
54
Abstract
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.
Journal title
Cancer Genetics and Cytogenetics
Serial Year
2008
Journal title
Cancer Genetics and Cytogenetics
Record number
1828914
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