- Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patientsA M Assis
Hemoglobin and Genome Laboratory, Hematology and Hemotherapy Center, State University of Campinas, UNICAMP, R Carlos Chagas, 480, Cidade Universitaria Zeferino Vaz, Campinas, SP, Brazil
J Hum Genet 52:237-43. 2007..We suggest the high rate of mutation detection and the small size of the ALK-1 gene make genomic sequencing a viable diagnostic test for HHT2...
- UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemiaK Y Fertrin
Clin Genet 64:160-2. 2003