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multiple pterygium syndrome, lethal type
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CHRNA1
Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases.
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.
Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor.
CHRND
Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor
CHRNG
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
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