Genetic heterogeneity of glycogen storag
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Pascale Trioche; Jeanne Francoual; Jacqueline Chalas; Liliane Capel; Albert Lind
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Article
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2000
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John Wiley and Sons
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English
⚖ 14 KB
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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