Page 3 - News tagged with spontaneous mutations

Cardiology

Researchers find a possible treatment for one of the main symptoms of premature aging disease

HGPS is a rare genetic disease that affects one in every 4-8 million births. The disease is caused by a spontaneous mutation in one of the two copies (alleles) of the gene LMNA, which codes for lamin A, a protein important ...

Jun 17, 2013

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Genetics

A novel neurological disorder associated with the Polycomb complex identified

A multi-institutional study has discovered spontaneous mutations in RNF2 (RING2) gene as the underlying cause of a novel neurological disorder. This Undiagnosed Diseases Network (UDN) study was led by Dr. Shinya Yamamoto, ...

Jul 8, 2021

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Neuroscience

Single mutation causes seizure disorder

Lennox-Gastaut syndrome is a severe early-onset seizure disorder that includes cognitive and behavioral abnormalities. Its pathophysiology is largely unknown.

Jun 26, 2020

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Page 3 - News tagged with spontaneous mutations

Researchers find a possible treatment for one of the main symptoms of premature aging disease

A novel neurological disorder associated with the Polycomb complex identified

Single mutation causes seizure disorder

Phys.org

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