A novel c.-22T>C mutation in <it>GALK1 </it>promoter is associated with elevated galactokinase phenotype

• 主要な著者: Kim Jin Q (著者), Park Kyoung (著者), Kim Yoon-Kyoung (著者), Park Hyung-Doo (著者), Song Young-Han (著者), Song Junghan (著者)
• フォーマット: 図書
• 出版事項: BMC, 2009-03-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Many genetic variations of <it>GALK1 </it>have been identified in the patients with galactokinase (GALK1) deficiency. However, the molecular characteristics of <it>GALK1 </it>in individuals with elevated GALK1...