Cloning of the Gene Encoding a Novel Integral Membrane Protein, Mucolipidin—and Identification of the Two Major Founder Mutations Causing Mucolipidosis Type IV

Autor: Bassi, Maria T., Manzoni, Marta, Monti, Eugenio, Pizzo, Maria T., Ballabio, Andrea, Borsani, Giuseppe
Zdroj: In The American Journal of Human Genetics 2000 67(5):1110-1120
Databáze: ScienceDirect