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

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 mutation...

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Publicado en:Am J Hum Genet
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5142111/
https://ncbi.nlm.nih.gov/pubmed/27889062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.11.005
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