Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT).

Source:http://linkedlifedata.com/resource/pubmed/id/11343339

Am. J. Med. Genet. 2001 Jun 1 101 1 55-8

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11343339