Citation: Ca. Rupar et al., A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population, J MED GENET, 38(9), 2001, pp. 615-616
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