Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. [electronic resource]
Producer: 20011018Description: 704-11 p. digitalISSN:- 0002-9297
- Abnormalities, Multiple -- genetics
- Bone Morphogenetic Protein Receptors, Type I
- Colonic Neoplasms -- complications
- DNA Mutational Analysis
- Genotype
- Germ-Line Mutation -- genetics
- Hamartoma Syndrome, Multiple -- complications
- Humans
- Intestinal Polyps -- complications
- Loss of Heterozygosity -- genetics
- Microsatellite Repeats -- genetics
- Phenotype
- Protein Serine-Threonine Kinases
- Receptors, Growth Factor
- Receptors, Transforming Growth Factor beta -- chemistry
- Syndrome
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.
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