Mutational analysis of the anion exchanger 3 gene in familial paroxysmal dystonic choreoathetosis linked to chromosome 2q
- 15 December 1999
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 88 (6) , 733-737
- https://doi.org/10.1002/(sici)1096-8628(19991215)88:6<733::aid-ajmg27>3.0.co;2-3
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British familyBrain, 1997
- A Gene for Autosomal Dominant Paroxysmal Choreoathetosis/Spasticity (CSE) Maps to the Vicinity of a Potassium Channel Gene Cluster on Chromosome 1p, Probably within 2 cM between D1S443 and D1S197Genomics, 1996
- Molecular cloning, expression, and chromosomal localization of two isoforms of the AE3 anion exchanger from human heart.Circulation Research, 1994
- Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1Nature Genetics, 1994
- Molecular Cloning and Physical and Genetic Mapping of the Human Anion Exchanger Isoform 3 (SLC2C) Gene to Chromosome 2q36Genomics, 1994
- Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35Nature Genetics, 1994
- Dihydropyridine receptor mutations cause hypokalemic periodic paralysisCell, 1994
- Identification of a mutation in the gene causing hyperkalemic periodic paralysisCell, 1991
- Regulation of intracellular pH by a neuronal homolog of the erythrocyte anion exchangerCell, 1989
- FAMILIAL PAROXYSMAL CHOREOATHETOSISArchives of Neurology & Psychiatry, 1940