A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.

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Published in Hum Mutat on January 01, 1997

Authors

J Shen1, Y Bao, Y T Chen

Author Affiliations

1: Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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