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Neutrophil metabolic dysfunction in genetically heterogeneous patients with glycogen storage disease type 1b

โœ Scribed by K. Narisawa; S. Ishizawa; H. Okumura; K. Tada; T. Kuzuya


Publisher
Springer
Year
1986
Tongue
English
Weight
287 KB
Volume
9
Category
Article
ISSN
0141-8955

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โœ Pascale Trioche; Jeanne Francoual; Jacqueline Chalas; Liliane Capel; Albert Lind ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 14 KB ๐Ÿ‘ 1 views

Forty-eight patients with glycogen storage disease type Ia (GSD Ia) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in th