Amitriptyline: Another cause of internuclear ophthalmoplegia with coma

Exon 6 skipping in the fanconi anemia C

Exon 6 skipping in the fanconi anemia C gene associated with a nonsense/missense mutation (775C→T) in exon 5: The first example of a nonsense mutation in one exon causing skipping of another downstream

✍ Jerome R. Lo Ten Foe; Frank A.E. Kruyt; Marjolein B.M. Zweekhorst; Gerard Pals; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 355 KB 👁 1 views

## How Fancbni anemia (FA) is a rare autosomal recessive disease characterized by diverse clinical symptoms, chromosomal instability, and hypersensitivity