De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

Hexokinase 1 (HK1) phosphorylates glucose to glucose-6-phosphate, the first rate-limiting step in glycolysis. Homozygous and heterozygous variants in HK1 have been shown to cause autosomal recessive non-spherocytic hemolytic anemia, autosomal recessive Russe type hereditary motor and sensory neuropa...

Full description

Saved in:
Bibliographic Details
Main Authors: Okur, Volkan, Cho, Megan T., van Wijk, Richard, van Oirschot, Brigitte, Picker, Jonathan, Coury, Stephanie A., Grange, Dorothy, Manwaring, Linda, Krantz, Ian, Muraresku, Colleen Clark, Hulick, Peter J., May, Holley, Pierce, Eric, Place, Emily, Bujakowska, Kinga, Telegrafi, Aida, Douglas, Ganka, Monaghan, Kristin G., Begtrup, Amber, Wilson, Ashley, Retterer, Kyle, Anyane-Yeboa, Kwame, Chung, Wendy K.
Format: Text
Language:English
Published: Springer International Publishing 2019
Subjects:
Article
Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC6777464/
https://pubmed.ncbi.nlm.nih.gov/30778173
http://dx.doi.org/10.1038/s41431-019-0366-9
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://pmc.ncbi.nlm.nih.gov/articles/PMC6777464/
https://pubmed.ncbi.nlm.nih.gov/30778173
http://dx.doi.org/10.1038/s41431-019-0366-9

Similar Items