Identification of pathogenic mutations in the human rapsyn gene
- 5 March 2003
- journal article
- Published by Springer Nature in Journal of Human Genetics
- Vol. 48 (4) , 204-207
- https://doi.org/10.1007/s10038-003-0005-7
Abstract
Journal of Human Genetics, official journal of the Japan Society of Human Genetics, publishes original articles and reviews on all aspects of human genetics, including medical genetics and genomicsKeywords
This publication has 12 references indexed in Scilit:
- Helix geometry in proteinsPublished by Elsevier ,2004
- Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic SyndromeAmerican Journal of Human Genetics, 2002
- Interactions of the Rapsyn RING-H2 Domain with DystroglycanJournal of Biological Chemistry, 2001
- Congenital Myasthenic Syndromes: New Insights from Molecular Genetic and Patch‐Clamp StudiesaAnnals of the New York Academy of Sciences, 1998
- Mechanism of nicotinic acetylcholine receptor cluster formation by rapsynProceedings of the National Academy of Sciences, 1998
- Electrostatic interaction of myristoylated proteins with membranes: simple physics, complicated biologyStructure, 1997
- Rapsyn's knobs and holes: eight tetratrico peptide repeatsBiochemical Journal, 1996
- Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient miceNature, 1995
- Mutagenesis of the 43-kD postsynaptic protein defines domains involved in plasma membrane targeting and AChR clustering.The Journal of cell biology, 1991
- The postsynaptic 43k protein clusters muscle nicotinic acetylcholine receptors in xenopus oocytesNeuron, 1990