Molecular features of 23 patients with glycogen storage disease type 3 in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations

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概要

• 論文の詳細を見る
• Nature Publishing Groupの論文

著者

• Aoyama Yoshiko

  Okinaka Memorial Inst. For Medical Res. Tokyo Jpn

• Ozer Isil

  Department Of Pediatric Nutrition And Metabolism Istanbul Medical Faculty Istanbul University

• Demirkol Mubeccel

  Department Of Pediatric Nutrition And Metabolism Istanbul Medical Faculty Istanbul University

関連論文

• Molecular characterization of Egyptian patients with glycogen storage disease type IIIa
• Molecular features of 23 patients with glycogen storage disease type 3 in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations
• Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa
• Molecular features of 23 patients with glycogen storage disease type III in Turkey : a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations

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