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| Title : Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland - |
| Author(s) : Munroe PB , Greene ND , Leung KY , Mole SE , Gardiner RM , Mitchison HM , Stephenson JB , Crow YJ |
| Ref : Journal of Medical Genetics , 35 :790 , 1998 |
| PubMedID: 9733046 |
| Gene_locus related to this paper: human-PPT1 |
| 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 : Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes - Lewis_1998_J.Physiol_507 ( Pt 1)_25 |
| Author(s) : Lewis TM , Sivilotti LG , Colquhoun D , Gardiner RM , Schoepfer R , Rees M |
| Ref : Journal of Physiology , 507 ( Pt 1) :25 , 1998 |
| Abstract : Lewis_1998_J.Physiol_507 ( Pt 1)_25 |
| ESTHER : Lewis_1998_J.Physiol_507 ( Pt 1)_25 |
| PubMedSearch : Lewis_1998_J.Physiol_507 ( Pt 1)_25 |
| PubMedID: 9490812 |