Search Results - Hlrschhorn, R.

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    A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII)

    A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII) by Huie, M. L., Chen, A. S., Brooks, S.Sklower, Grix, A., Hlrschhorn, R.

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