BMPR1A
MIM.601299 10q22.3
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ALK3, ACVRLK3
Pathology
mutation in
- Cowden disease (MIM.158350)
- juvenile polyposis (MIM.174900)
- hereditary mixed polyposis syndrome-2 (HMPS2)
References
Cao, X.; Eu, K. W.; Kumarasinghe, M. P.; Li, H. H.; Loi, C.; Cheah, P. Y. : Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. J. Med. Genet. 43: e13, 2006. PubMed ID : 16525031