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Different course of lung disease in two siblings with novelABCA3mutations

✍ Scribed by Hallik, Maarja; Annilo, Tarmo; Ilmoja, Mari-Liis

Book ID
120908105
Publisher
Springer
Year
2013
Tongue
English
Weight
203 KB
Volume
173
Category
Article
ISSN
0340-6997

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Identification of a novel mutation (867d
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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