Associated Papers
Fatal Case of Exercise Collapse Associated with Sickle Cell Trait with Novel Underlying LAMA2 Mutation.
Jaramillo CJ et al.
The American Journal of Forensic Medicine and Pathology, 2024
Prime editing optimized RTT permits the correction of the c.8713C>T mutation in DMD gene.
Happi Mbakam C et al.
Molecular Therapy. Nucleic Acids, 2022
Clinical applications of molecular genetic discoveries.
Marian AJ
Translational Research : the Journal of Laboratory and Clinical Medicine, 2016
Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-beta aggregates.
Singh SM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
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