28 ALCOHOL INTOLERANCE, ACUTE
29 ACETALDEHYDE DEHYDROGENASE 2, ALLELE 2, INCLUDED; ALDH2*2, INCLUDED XXX!
30 ACETALDEHYDE DEHYDROGENASE 2, ALLELE 2, INCLUDED; ALDH2*2, INCLUDED XXX!
31 ACETALDEHYDE DEHYDROGENASE 2, ALLELE 2, INCLUDED; ALDH2*2, INCLUDED XXX!
37 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
38 ACETALDEHYDE DEHYDROGENASE 2, ALLELE 2, INCLUDED; ALDH2*2, INCLUDED XXX!
44 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
51 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
54 Sieb et al. (2000) found that a brother and sister with congenital
55 myasthenic syndrome (601462) were compound heterozygotes for a deletion
56 of 911T and a splicing mutation (IVS4+1G-A; 100725.0007).
59 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
60 CHRNE, IVS4DS, G-A, +1
62 See 100725.0006 and Sieb et al. (2000).
65 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
66 CHRNE, 1-BP DEL, 1030C
77 1. Author11, A. A.; Author12, A. A.: Title 1. Am. J. Med. Genet1. 11: 11-111, 1981.
79 2. Author21, A. A.; Author22, A. A.: Title 2. Am. J. Med. Genet2. 12: 22-222, 1982.
81 3. Author31, A. A.; Author32, A. A.: Title 3. Am. J. Med. Genet3. 13: 33-333, 1983.
83 4. other reference undef format
142 ALCOHOL INTOLERANCE, ACUTE
143 ACETALDEHYDE DEHYDROGENASE 2, ALLELE 2, INCLUDED; ALDH2*2, INCLUDED XXX!
144 ACETALDEHYDE DEHYDROGENASE 2, ALLELE 2, INCLUDED; ALDH2*2, INCLUDED XXX!
145 ACETALDEHYDE DEHYDROGENASE 2, ALLELE 2, INCLUDED; ALDH2*2, INCLUDED XXX!
151 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
152 ACETALDEHYDE DEHYDROGENASE 2, ALLELE 2, INCLUDED; ALDH2*2, INCLUDED XXX!
158 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
165 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
166 CHRNE, 1-BP DEL, 911T
168 Sieb et al. (2000) found that a brother and sister with congenital
169 myasthenic syndrome (601462) were compound heterozygotes for a deletion
170 of 911T and a splicing mutation (IVS4+1G-A; 100725.0007).
173 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
174 CHRNE, IVS4DS, G-A, +1
176 See 100725.0006 and Sieb et al. (2000).
179 MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
180 CHRNE, 1-BP DEL, 1030C
191 1. Author11, A. A.; Author12, A. A.: Title 1. Am. J. Med. Genet1. 11: 11-111, 1981.
193 2. Author21, A. A.; Author22, A. A.: Title 2. Am. J. Med. Genet2. 12: 22-222, 1982.
195 3. Author31, A. A.; Author32, A. A.: Title 3. Am. J. Med. Genet3. 13: 33-333, 1983.
197 4. other reference undef format