Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. [electronic resource]
- American journal of human genetics Oct 2001
- 704-11 p. digital
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.
0002-9297
10.1086/323703 doi
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