Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (- 13T->G) mutation in a majority of patients and a novel IVS10 (+ 1GT -> CT) mutation期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (- 13T->G) mutation in a majority of patients and a novel IVS10 (+ 1GT -> CT) mutation

Authors:	Hule, M.L. Chen, A.S. Tsujino, S. Shanske, S. DiMauro, S. Engel, A.G. Hirschhorn, R.

Affiliation:	New York University Medical Center, Department of Medicine, Division of Medical Genetics 550 First Avenue, New York, NY 10016 ¹Columbia College of Physicians & Surgeons, Department of Neurology 630 West 168th Street, New York, NY 10032 ²Mayo Clinic Guggenheim Building, Rochester, MN 55905, USA

Abstract:	Two newly identified splice site mutations (IVS1 13T

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