Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome

Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Croxen, R, Vincent, A, Newsom-Davis, J, Beeson, D
Μορφή:	Journal article
Έκδοση:	2000

Παρόμοια τεκμήρια

Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
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Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
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Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
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End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.
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Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.
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Novel mutation in the muscle acetylcholine receptor a-subunit underlies a fast channel congenital myasthenic syndrome
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Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR
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AChR β-Subunit mRNAs Are Stabilized by HuR in a Mouse Model of Congenital Myasthenic Syndrome With Acetylcholinesterase Deficiency
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Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings
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Mutations in dok-7 underlie a congenital myasthenic syndrome with a (sic)Limb girdle broken vertical bar pattern of muscle weakness.
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