Start Date
2021
Description
- Mutations to BCS1L can lead to one of three distinct rare diseases: Björnstad syndrome, BCS1L mitopathy, GRACILE syndrome
- These diseases cause a variety of symptoms in patients that range from mild (hearing loss and brittle hair) to severe and fatal (iron overload, failure to thrive, lactic acidosis, aminoaciduria, early death)
Recommended Citation
DeYoung, Josh; Heeringa, Sadie; Baker, Rachael; and Wilstermann, Amy, "Molecular Dynamics of BCS1L: A New Homology Model and the Structural Impact of Pathogenic Mutations" (2021). Summer Research. 22.
https://digitalcommons.calvin.edu/summer_research/2021/Posters/22
COinS
Jan 1st, 12:00 AM
Molecular Dynamics of BCS1L: A New Homology Model and the Structural Impact of Pathogenic Mutations
- Mutations to BCS1L can lead to one of three distinct rare diseases: Björnstad syndrome, BCS1L mitopathy, GRACILE syndrome
- These diseases cause a variety of symptoms in patients that range from mild (hearing loss and brittle hair) to severe and fatal (iron overload, failure to thrive, lactic acidosis, aminoaciduria, early death)