共 50 条
- [23] A single nucleotide deletion in the ε subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency MYASTHENIA GRAVIS AND RELATED DISEASES: DISORDERS OF THE NEUROMUSCULAR JUNCTION, 1998, 841 : 195 - 198
- [26] Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2002, 73 (02): : 230 - 230
- [29] Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR ε subunit gene MYASTHENIA GRAVIS AND RELATED DISEASES: DISORDERS OF THE NEUROMUSCULAR JUNCTION, 1998, 841 : 184 - 188