title: Novel human pathological mutations. Gene symbol: ACVRL1. Disease: haemorrhagic telangiectasia 2.
authors.affiliation: Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA. ellison.jay@mayo.edu
authors.forename: Jay
authors.initials: J
authors.lastname: Ellison
authors.forename: Neeraj
authors.initials: N
authors.lastname: Kumar
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics*; D019943:Amino Acid Substitution; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics
chemical_list: D003062:Codon; C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II