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Perioperative management of benign hepatic tumors in patients with glycogen storage disease type Ia

โœ Scribed by Oshita, Akihiko ;Itamoto, Toshiyuki ;Amano, Hironobu ;Ohdan, Hideki ;Tashiro, Hirotaka ;Asahara, Toshimasa


Publisher
Springer
Year
2008
Tongue
English
Weight
151 KB
Volume
15
Category
Article
ISSN
0944-1166

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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