Identification of a Missense Mutation in an Adult-Onset Patient with Glycogenosis Type II Expressing Only One Allele
Frank Martiniuk(Psychogenics (United States)), Rochelle Hirschhorn(New York University), Mark F. Mehler(Albert Einstein College of Medicine), Ning Zhong(New York University), Michael J. Bodkin, S Tzall(Albert Einstein College of Medicine), Kurt Hirschhorn(Icahn School of Medicine at Mount Sinai)
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