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Identification of novel polymorphisms in the glucokinase and glucose-6-phosphatase genes in infants who died suddenly and unexpectedly

✍ Scribed by Laura Forsyth; Robert Hume; Allan Howatson; Anthony Busuttil; Ann Burchell


Book ID
105796346
Publisher
Springer
Year
2005
Tongue
English
Weight
352 KB
Volume
83
Category
Article
ISSN
0946-2716

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Three novel mutations, Q54P, W70X and T108I, were identified in the gene encoding glucose-6phosphatase 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

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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