Authors:
Metcalfe, K
Rucka, AK
Smoot, L
Hofstadler, G
Tuzler, G
McKeown, P
Siu, V
Rauch, A
Dean, J
Dennis, N
Ellis, I
Reardon, W
Cytrynbaum, C
Osborne, L
Yates, JR
Read, AP
Donnai, D
Tassabehji, M
Citation: K. Metcalfe et al., Elastin: mutational spectrum in supravalvular aortic stenosis, EUR J HUM G, 8(12), 2000, pp. 955-963
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