Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
Prif Awduron: | Croxen, R, Vincent, A, Newsom-Davis, J, Beeson, D |
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Fformat: | Journal article |
Cyhoeddwyd: |
2000
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Eitemau Tebyg
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Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
gan: Bonifati, D, et al.
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Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations.
gan: Croxen, R, et al.
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Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
gan: Webster, R, et al.
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Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
gan: Beeson, D, et al.
Cyhoeddwyd: (2003) -
End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.
gan: Croxen, R, et al.
Cyhoeddwyd: (2001)