Homozygous Mutations in the 5′ Region of the JUP Gene Result in Cutaneous Disease but Normal Heart Development in Children

Autor: Cabral, Rita M., Liu, Lu, Hogan, Carol, Dopping-Hepenstal, Patricia J.C., Winik, Beatriz C., Asial, Raúl A., Dobson, Richard, Mein, Charles A., Baselaga, Patricia A., Mellerio, Jemima E., Nanda, Arti, Boente, Maria del Carmen, Kelsell, David P., McGrath, John A., South, Andrew P. *
Zdroj: In Journal of Investigative Dermatology June 2010 130(6):1543-1550
Databáze: ScienceDirect