Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
- 29 October 2002
- journal article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 10 (11) , 773-781
- https://doi.org/10.1038/sj.ejhg.5200866
Abstract
The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.Keywords
This publication has 16 references indexed in Scilit:
- Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostosesEuropean Journal of Human Genetics, 2000
- tip genes act in parallel pathways of earlyDictyostelium developmentDevelopmental Genetics, 1999
- Progressive pseudobulbar paresis, early choreiform movements, and later rigidity: Appearance in two sets of dizygotic twins in the same familyMovement Disorders, 1998
- SOI1 Encodes a Novel, Conserved Protein That Promotes TGN–Endosomal Cycling of Kex2p and Other Membrane Proteins by Modulating the Function of Two TGN Localization SignalsThe Journal of cell biology, 1997
- Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21American Journal of Human Genetics, 1997
- Allele-Specific Suppression of a Defective trans-Golgi Network (TGN) Localization Signal in Kex2p Identifies Three Genes Involved in Localization of TGN Transmembrane ProteinsMolecular and Cellular Biology, 1996
- The Pattern of Cognitive Impairments in NeuroacanthocytosisArchives of Neurology, 1996
- Diagnostic tests for choreoacanthocytosisNeurology, 1991
- Neuroacanthocytosis syndrome, apraxia of eyelid opening, and progressive supranuclear palsyNeurology, 1986
- Hereditary Neurological Disease With AcanthocytosisArchives of Neurology, 1968