Title : Congenital myasthenic syndromes due to heteroallelic nonsense\/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations - Ohno_1997_Hum.Mol.Genet_6_753 |
Author(s) : Ohno K , Quiram PA , Milone M , Wang HL , Harper MC , Pruitt JN, 2nd , Brengman JM , Pao L , Fischbeck KH , Crawford TO , Sine SM , Engel AG |
Ref : Hum Mol Genet , 6 :753 , 1997 |
Abstract : Ohno_1997_Hum.Mol.Genet_6_753 |
ESTHER : Ohno_1997_Hum.Mol.Genet_6_753 |
PubMedSearch : Ohno_1997_Hum.Mol.Genet_6_753 |
PubMedID: 9158150 |
Ohno K, Quiram PA, Milone M, Wang HL, Harper MC, Pruitt JN, 2nd, Brengman JM, Pao L, Fischbeck KH, Crawford TO, Sine SM, Engel AG (1997)
Congenital myasthenic syndromes due to heteroallelic nonsense\/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations
Hum Mol Genet
6 :753
Ohno K, Quiram PA, Milone M, Wang HL, Harper MC, Pruitt JN, 2nd, Brengman JM, Pao L, Fischbeck KH, Crawford TO, Sine SM, Engel AG (1997)
Hum Mol Genet
6 :753