✦ LIBER ✦

Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes

✍ Scribed by Jan Peter Rake; Annelies M. ten Berge; Gepke Visser; Edwin Verlind; Klary E. Niezen-Koning; Charles H.C.M. Buys; G. Peter A. Smit; Hans Scheffer

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 10 KB
Volume: 15
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(200004)15:4<381::aid-humu13>3.0.co;2-k

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✦ Synopsis

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. Till so far, no evidence for a clear genotype-phenotype correlation has been found.

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