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

• Main Authors: Kim Jin Q (Author), Park Kyoung (Author), Kim Yoon-Kyoung (Author), Park Hyung-Doo (Author), Song Young-Han (Author), Song Junghan (Author)
• Format: Book
• Published: BMC, 2009-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...