TY  - GEN
AU  - Ohno,K
AU  - Anlar,B
AU  - Ozdirim,E
AU  - Brengman,J M
AU  - Engel,A G
TI  - Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes
SN  - 0077-8923
PY  - 1998///0804
KW  - Adolescent
KW  - Adult
KW  - Alternative Splicing
KW  - Child
KW  - Female
KW  - Frameshift Mutation
KW  - Humans
KW  - Macromolecular Substances
KW  - Male
KW  - Models, Molecular
KW  - Myasthenia Gravis
KW  - congenital
KW  - Nuclear Family
KW  - Pedigree
KW  - Protein Conformation
KW  - Receptors, Cholinergic
KW  - deficiency
KW  - Syndrome
KW  - Turkey
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1111/j.1749-6632.1998.tb10926.x
ER  -