Biochemical Characterization of Arylsulfatase E and Functional Analysis of Mutations Found in Patients with X-Linked Chondrodysplasia Punctata

Autor: Daniele, Aurora *, †, Parenti, Giancarlo *, d'Addio, Marilena, Andria, Generoso, Ballabio, Andrea, Meroni, Germana **
Zdroj: In The American Journal of Human Genetics 1998 62(3):562-572
Databáze: ScienceDirect