Genetic heterogeneity of glycogen storage disease type Ia in France: A study of 48 patients

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...

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Veröffentlicht in:	Human mutation 2000-11, Vol.16 (5), p.444-444
Hauptverfasser:	Trioche, Pascale, Francoual, Jeanne, Chalas, Jacqueline, Capel, Liliane, Lindenbaum, Albert, Odièvre, Michel, Labrune, Philippe
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles France - epidemiology French G6PC Genetic Heterogeneity glucose-6-phosphatase Glucose-6-Phosphatase - genetics Glucose-6-Phosphatase - metabolism Glycogen Storage Disease Type I - enzymology Glycogen Storage Disease Type I - epidemiology Glycogen Storage Disease Type I - genetics glycogen storage disease type Ia Humans Liver - enzymology Mutation - genetics Prevalence Sequence Deletion - genetics
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