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Keywords: Ryanodine receptor
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Journal Articles
Journal: Development
Development (2007) 134 (15): 2771–2781.
Published: 1 August 2007
... of the ryanodine receptor 1b( ryr1b ) mRNA in mutants carried a nonsense mutation that was generated by aberrant splicing due to a DNA insertion in an intron of the ryr1b gene, leading to a hypomorphic condition in relatively relaxed mutants. RYR1 mutations in humans lead to a congenital myopathy,multi-minicore...
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