Spectrum of Mutations in the Batten Disease Gene, CLN3
- 1 August 1997
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 61 (2), 310-316
- https://doi.org/10.1086/514846
Abstract
No abstract availableKeywords
This publication has 20 references indexed in Scilit:
- Genomic Structure and Complete Nucleotide Sequence of the Batten Disease Gene,CLN3Genomics, 1997
- A model for Batten disease protein CLN3: Functional implications from homology and mutationsFEBS Letters, 1996
- Isolation and Chromosomal Mapping of a Mouse Homolog of the Batten Disease GeneCLN3Genomics, 1996
- Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects.Journal of Medical Genetics, 1995
- Genetic Mapping of the Batten Disease Locus (CLN3) to the Interval D16S288-D16S383 by Analysis of Haplotypes and Allelic AssociationGenomics, 1994
- Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.Journal of Medical Genetics, 1994
- Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16Genomics, 1990
- Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patientsCell, 1990
- Neuronal ceroid-lipofuscinoses in childhoodBrain & Development, 1988
- Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalitiesAmerican Journal of Medical Genetics, 1988