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Title : Mutations in the palmitoyl-protein thioesterase gene (PPT\; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits - Mitchison_1998_Hum.Mol.Genet_7_291 |
Author(s) : Mitchison HM , Hofmann SL , Becerra CH , Munroe PB , Lake BD , Crow YJ , Stephenson JB , Williams RE , Hofman IL , Taschner PE , Martin JJ , Philippart M , Andermann E , Andermann F , Mole SE , Gardiner RM , O'Rawe AM |
Ref : Hum Mol Genet , 7 :291 , 1998 |
Abstract : Mitchison_1998_Hum.Mol.Genet_7_291 |
ESTHER : Mitchison_1998_Hum.Mol.Genet_7_291 |
PubMedSearch : Mitchison_1998_Hum.Mol.Genet_7_291 |
PubMedID: 9425237 |
Gene_locus related to this paper: human-PPT1 |
Title : Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S - Das_1998_J.Clin.Invest_102_361 |
Author(s) : Das AK , Becerra CH , Yi W , Lu JY , Siakotos AN , Wisniewski KE , Hofmann SL |
Ref : Journal of Clinical Investigation , 102 :361 , 1998 |
Abstract : Das_1998_J.Clin.Invest_102_361 |
ESTHER : Das_1998_J.Clin.Invest_102_361 |
PubMedSearch : Das_1998_J.Clin.Invest_102_361 |
PubMedID: 9664077 |
Gene_locus related to this paper: human-PPT1 |