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 ,
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.
