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

BACKGROUND: Many genetic variations of GALK1 have been identified in the patients with galactokinase (GALK1) deficiency. However, the molecular characteristics of GALK1 in individuals with elevated GALK1 activity are relatively unknown. METHODS: We investigated the relationship between elevated GALK...

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Detalles Bibliográficos
Autores principales: Park, Hyung-Doo, Kim, Yoon-Kyoung, Park, Kyoung Un, Kim, Jin Q, Song, Young-Han, Song, Junghan
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667498/
https://www.ncbi.nlm.nih.gov/pubmed/19309526
http://dx.doi.org/10.1186/1471-2350-10-29

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667498/
https://www.ncbi.nlm.nih.gov/pubmed/19309526
http://dx.doi.org/10.1186/1471-2350-10-29

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