Article
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
American journal of human genetics - 1 Dec 2016
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
Abstract excerpt
The genetic basis of epidermolysis bullosa, a group of genetic disorders characterized by the mechanically induced formation of skin blisters, is largely known, but a number of cases still remain genetically unsolved. Here, we used whole-exome and targeted sequencing to identify monoallelic mutations, c.1A>G and c.2T>C, in the translation initiation codon of the gene encoding kelch-like protein 24 (KLHL24) in 14...
Topics
Join the communities discussing this publication.