A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene?

BACKGROUND AND AIM: Familial juvenile polyposis syndrome (JPS) is a rare autosomal dominant condition in which patients develop hamartomatous gastrointestinal polyps with malignant potential. Pathogenic germline mutations in both the SMAD4 and BMPR1A genes involved in the transforming growth factor...

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Detalhes bibliográficos
Principais autores: Chow, E, Lipton, L, Carvajal-Carmona, L, Arthur, G, Bhathal, P, Kaur, G, Jaeger, E, Woodford-Richens, K, Howarth, K, Tomlinson, I, Macrae, F
Formato: Journal article
Idioma:English
Publicado em: Blackwell Publishing 2007