Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21 - Stoilov, I; Akarsu, A N; Sarfarazi, M (Hum Mol Genet, 1997)