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

Xehetasun bibliografikoak
Egile Nagusiak:	Croxen, R, Vincent, A, Newsom-Davis, J, Beeson, D
Formatua:	Journal article
Argitaratua:	2000

Antzeko izenburuak

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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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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AChR β-Subunit mRNAs Are Stabilized by HuR in a Mouse Model of Congenital Myasthenic Syndrome With Acetylcholinesterase Deficiency
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