Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility

Autor: He, Yinghong, Maier, Kristin, Leppert, Juna, Hausser, Ingrid, Schwieger-Briel, Agnes, Weibel, Lisa, Theiler, Martin, Kiritsi, Dimitra, Busch, Hauke, Boerries, Melanie, Hannula-Jouppi, Katariina, Heikkilä, Hannele, Tasanen, Kaisa, Castiglia, Daniele, Zambruno, Giovanna, Has, Cristina
Zdroj: In The American Journal of Human Genetics 1 December 2016 99(6):1395-1404
Databáze: ScienceDirect