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Functional Characterization of the Novel Mutation IVS 8 (−11delC) (−14T>A) in the Intron 8 of the Glucocerebrosidase Gene of Two Italian Siblings with Gaucher Disease Type I

✍ Scribed by Maurizio Romano; Giorgia M Danek; Francisco E Baralle; Raffaella Mazzotti; Mirella Filocamo


Book ID
115590027
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
98 KB
Volume
26
Category
Article
ISSN
1079-9796

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Identification of a novel mutation (867d
✍ Jan Peter Rake; Annelies M. ten Berge; Gepke Visser; Edwin Verlind; Klary E. Nie 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 2 views

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 heterog