Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes.

Subjects

Subjects :

Adolescent
Adult
Child
Female
Humans
Macromolecular Substances
Male
Models, Molecular
Myasthenia Gravis congenital
Nuclear Family
Pedigree
Protein Conformation
Receptors, Cholinergic deficiency
Receptors, Cholinergic metabolism
Syndrome
Turkey
Alternative Splicing
Frameshift Mutation
Myasthenia Gravis genetics
Receptors, Cholinergic genetics

Details

Language :

English

ISSN :

0077-8923

Volume :

841

Database :

MEDLINE

Journal :

Annals of the New York Academy of Sciences

Publication Type :

Academic Journal

Accession number :

9668238

Full Text :

https://doi.org/10.1111/j.1749-6632.1998.tb10926.x