Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes
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| Published in | Annals of the New York Academy of Sciences Vol. 841; pp. 189 - 194 |
|---|---|
| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
13.05.1998
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| Subjects | |
| Online Access | Get full text |
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| Author | Ohno, K Brengman, J M Anlar, B Ozdirim, E Engel, A G |
|---|---|
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/9668238$$D View this record in MEDLINE/PubMed |
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| DOI | 10.1111/j.1749-6632.1998.tb10926.x |
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| EndPage | 194 |
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| GeographicLocations | Turkey |
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| SubjectTerms | 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 |
| Title | Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes |
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