Gene Review:
CHRNE - cholinergic receptor, nicotinic, epsilon...
Homo sapiens
Synonyms:
ACHRE, Acetylcholine receptor subunit epsilon, CMS1D, CMS1E, CMS2A, ...
- A frameshifting mutation in CHRNE unmasks skipping of the preceding exon. Ohno, K., Milone, M., Shen, X.M., Engel, A.G. Hum. Mol. Genet. (2003)
- D17S1175: dinucleotide repeat polymorphism 5' to CHRNE. Betty, M., Beeson, D., West, L., Vincent, A., Newsom-Davis, J. Hum. Mol. Genet. (1994)
- CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. M??ller, J.S., Baumeister, S.K., Schara, U., Cossins, J., Krause, S., von der Hagen, M., Huebner, A., Webster, R., Beeson, D., Lochm??ller, H., Abicht, A. Brain (2006)
- Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries. Ohno, K., Tsujino, A., Shen, X.M., Milone, M., Engel, A.G. J. Med. Genet. (2005)