Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E, Baron K, Widmer U, Deegan P, Neumann HP, Sunder-Plassmann G, Johansson JO, Whybra C, Ries M, Pastores GM, Mehta A, Beck M, Gal A.
Schäfer E, et al. Among authors: ries m.
Hum Mutat. 2005 Apr;25(4):412. doi: 10.1002/humu.9327.
Hum Mutat. 2005.
PMID: 15776423