Williams RE

Title : Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses - Mole_2005_Neurogenetics_6_107

Author(s) : Mole SE , Williams RE , Goebel HH

Ref : Neurogenetics , 6 :107 , 2005

Abstract :

PubMedSearch : Mole_2005_Neurogenetics_6_107

PubMedID: 15965709

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 :

PubMedSearch : Mitchison_1998_Hum.Mol.Genet_7_291

PubMedID: 9425237

Gene_locus related to this paper: human-PPT1

Williams RE

References (2)

1. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses - Mole_2005_Neurogenetics_6_107

2. 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