title: Gene symbol: CHRNE. Disease: Endplate acetylcholine receptor deficiency.
authors.affiliation: Department of Neurogenetics and Bioinformatics, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya 466-8550, Japan. ohnok@med.nagoya-u.ac.jp
authors.forename: K
authors.initials: K
authors.lastname: Ohno
authors.forename: Andrew G
authors.initials: AG
authors.lastname: Engel
mesh_terms: D005091:Exons / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*; D011950:Receptors, Cholinergic / Q000172:deficiency / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; D011950:Receptors, Cholinergic