Mutation in Brief
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Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia
First published: 01 July 1999
Citations: 7
Communicated by: R.G.H. Cotton
Online Citation: Human Mutation, Mutation in Brief #256 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/256.pdf
Abstract
Three novel mutations, Q54P, W70X and T108I, were identified in the gene encoding glucose-6-phosphatase in three patients with glycogen storage disease type Ia. Two sibs of Portuguese origin were homozygous for the Q54P mutation whereas the third patient, originating from both France and Lebanon, was a compound heterozygote for the W70X and T108I mutations. Glycogen storage disease type Ia is a heterogeneous autosomal recessive condition. Hum Mutat 14:91, 1999. © 1999 Wiley-Liss, Inc.
