Hidden Gene Deletions Explain Severe Friedreich Ataxia Cases Misdiagnosed by Standard Testing
Researchers have identified covert deletions of the proximal FXN gene that standard testing mistakes for identical repeat expansions, revealing a ...
Tag: frataxin
Frataxin Gene Emerges as Biomarker and Protective Switch in Glaucoma
A new study identifies the frataxin gene FXN as a diagnostic biomarker for primary open-angle glaucoma and shows that the ...
Stem Cell Transplant Cured a Girl’s Leukemia but Left Her Friedreich Ataxia Unchanged
A decade-long case report shows that allogeneic stem cell transplantation cured a Friedreich's ataxia patient's leukemia and normalized her blood ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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