Authors: Smith, SJ Rucka, AK Berry, JL Davies, M Mylchreest, S Paterson, CR Heath, DA Tassabehji, M Read, AP Mee, AP Mawer, EB

Citation: Sj. Smith et al., Novel mutations in the 1 alpha-hydroxylase (P450cl) gene in three familieswith pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages, J BONE MIN, 14(5), 1999, pp. 730-739