Gene symbol: COL1A2. Disease: osteogenesis imperfecta type II.
Tinkle
B T
BT
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, OH 45229, USA. bradley.tinkle@cchmc.org
Miller
E
E
Schorry
E K
EK
D019943:Amino Acid Substitution / Q000235:genetics; D003094:Collagen / Q000235:genetics*; D024042:Collagen Type I; D006801:Humans; D020125:Mutation, Missense; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000235:genetics*
D024042:Collagen Type I; D003094:Collagen