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Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7

Qu Yu-jin, Du Juan, Li Er-zhen, Bai Jin-li, Jin Yu-wei, Wang Hong and Song Fang*

BMC Medical Genetics 2012, 13:86  doi:10.1186/1471-2350-13-86

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