Cooning of the genes encoding the two different glucose dehydrogenases fromAcinetobacter calcoaceticus
โ Scribed by Anne-Marie Cleton-Jansen; Nora Goosen; Kees Vink; Pieter Putte
- Publisher
- Springer Netherlands
- Year
- 1989
- Tongue
- English
- Weight
- 340 KB
- Volume
- 56
- Category
- Article
- ISSN
- 0003-6072
No coin nor oath required. For personal study only.
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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
## Communicated by Francesco Giannelli DNA sequencing revealed seven different glucose-6-phosphate dehydrogenase (G6PD) mutations in G6PD deficient subjects from 10 Polish families. Among them we found two novel mutations: 679CยฎT (G6PD Radlowo, class 2) and a 1006AยฎG (G6PD Torun, class 1). Variant