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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 : The Schwartz-Jampel syndrome. Its clinical, physiological and histological expressions - |
| Author(s) : Fowler WM, Jr. , Layzer RB , Taylor RG , Eberle ED , Sims GE , Munsat TL , Philippart M , Wilson BW |
| Ref : Journal of Neurology Sci , 22 :127 , 1974 |
| PubMedID: 4830552 |