Title : A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis - Mazzei_2002_J.Neurol_249_1398 |
Author(s) : Mazzei R , Conforti FL , Magariello A , Bravaccio C , Militerni R , Gabriele AL , Sampaolo S , Patitucci A , Di Iorio G , Muglia M , Quattrone A |
Ref : Journal of Neurology , 249 :1398 , 2002 |
Abstract : Mazzei_2002_J.Neurol_249_1398 |
ESTHER : Mazzei_2002_J.Neurol_249_1398 |
PubMedSearch : Mazzei_2002_J.Neurol_249_1398 |
PubMedID: 12382155 |
Gene_locus related to this paper: human-PPT1 |
Gene_locus related to this paper: human-PPT1 |
Mazzei R, Conforti FL, Magariello A, Bravaccio C, Militerni R, Gabriele AL, Sampaolo S, Patitucci A, Di Iorio G, Muglia M, Quattrone A (2002)
A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis
Journal of Neurology
249 :1398
Mazzei R, Conforti FL, Magariello A, Bravaccio C, Militerni R, Gabriele AL, Sampaolo S, Patitucci A, Di Iorio G, Muglia M, Quattrone A (2002)
Journal of Neurology
249 :1398