Identification of a Mutation Cluster in Mevalonate Kinase Deficiency, Including a New Mutation in a Patient of Mennonite Ancestry

Autor: Hinson, Debra D., Ross, Richard M., Krisans, Skaidrite, Shaw, Joanne L., Kozich, Viktor, Rolland, Marie-Odile, Divry, Priscille, Mancini, Josette, Hoffmann, Georg F., Gibson, K. Michael *
Zdroj: In The American Journal of Human Genetics August 1999 65(2):327-335
Databáze: ScienceDirect