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

Saved in:
Bibliographic Details
Published inAnnals of the New York Academy of Sciences Vol. 841; pp. 189 - 194
Main Authors Ohno, K, Anlar, B, Ozdirim, E, Brengman, J M, Engel, A G
Format Journal Article
LanguageEnglish
Published United States 13.05.1998
Subjects
Adolescent
Adult
Alternative Splicing
Child
Female
Frameshift Mutation
Humans
Macromolecular Substances
Male
Models, Molecular
Myasthenia Gravis - congenital
Myasthenia Gravis - genetics
Nuclear Family
Pedigree
Protein Conformation
Receptors, Cholinergic - deficiency
Receptors, Cholinergic - genetics
Receptors, Cholinergic - metabolism
Syndrome
Turkey
Turkey
Online AccessGet full text

Cover

More Information
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0077-8923
DOI:10.1111/j.1749-6632.1998.tb10926.x