Article
Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.
Human mutation - 1 Apr 2000
Rake J P, ten Berge A M, Visser G, Verlind E, Niezen-Koning K E, Buys C H, Smit G P, Scheffer H
Abstract excerpt
We identified a novel mutation (867delA) in the glucose-6-phosphatase gene of two siblings with glycogen storage disease type Ia. Although both siblings share the same mutations, their phenotype regarding adult height and hepatomegaly differs. In glycogen storage disease type Ia, substantial heterogeneity in phenotype is observed. So far, no evidence for a clear genotype-phenotype correlation has been found. Hum...
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