Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes.
Muscle Research Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA.
K
K
Ohno
B
B
Anlar
E
E
Ozdirim
J M
JM
Brengman
A G
AG
Engel
D000293:Adolescent; D000328:Adult; D017398:Alternative Splicing; D002648:Child; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D046911:Macromolecular Substances; D008297:Male; D008958:Models, Molecular; D009157:Myasthenia Gravis / Q000151:congenital / Q000235:genetics*; D009679:Nuclear Family; D010375:Pedigree; D011487:Protein Conformation; D011950:Receptors, Cholinergic / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D013577:Syndrome; D014421:Turkey
D046911:Macromolecular Substances; D011950:Receptors, Cholinergic