Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8
- 1 January 2001
- journal article
- Published by Elsevier in European Journal of Paediatric Neurology
- Vol. 5, 21-27
- https://doi.org/10.1053/ejpn.2000.0429
Abstract
No abstract availableKeywords
This publication has 14 references indexed in Scilit:
- The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.Human Molecular Genetics, 2000
- The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8Nature Genetics, 1999
- A New Locus for Variant Late Infantile Neuronal Ceroid Lipofuscinosis—CLN7Molecular Genetics and Metabolism, 1999
- Genetic and Physical Mapping of theCLN6Gene on Chromosome 15q21–23Molecular Genetics and Metabolism, 1999
- CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosisNature Genetics, 1998
- Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid LipofuscinosisScience, 1997
- High-Resolution Mapping and Transcript Identification at the Progressive Epilepsy with Mental Retardation Locus on Chromosome 8pGenome Research, 1997
- Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23Human Molecular Genetics, 1997
- A simple salting out procedure for extracting DNA from human nucleated cellsNucleic Acids Research, 1988
- Homozygosity Mapping: A Way to Map Human Recessive Traits with the DNA of Inbred ChildrenScience, 1987