Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

Authors :: Ohno, Kinji
Engel, Andrew G.
Shen, Xin-Ming
Selcen, Duygu
Brengman, Joan
Harper, C. Michael
Tsujino, Akira
Milone, Margherita
Source :: American Journal of Human Genetics. April, 2002, Vol. 70 Issue 4, p875, 11 p.
Publication Year :: 2002

Subjects :: Neuromuscular diseases -- Genetic aspects
Human beings -- Genetic aspects
Mutation (Biology) -- Genetic aspects
Acetylcholine -- Receptors
Synapses -- Physiological aspects
Cytoskeleton -- Genetic aspects
Biological sciences

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