Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

The CRISPR/Cas technology enables targeted genome editing and the rapid generation of transgenic animal models for the study of human genetic disorders. Here we describe an autosomal recessive human disease in two unrelated families characterized by a split-foot defect, nail abnormalities of the han...

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Detalhes bibliográficos
Publicado no:Genome Res
Main Authors: Spielmann, Malte, Kakar, Naseebullah, Tayebi, Naeimeh, Leettola, Catherine, Nürnberg, Gudrun, Sowada, Nadine, Lupiáñez, Darío G., Harabula, Izabela, Flöttmann, Ricarda, Horn, Denise, Chan, Wing Lee, Wittler, Lars, Yilmaz, Rüstem, Altmüller, Janine, Thiele, Holger, van Bokhoven, Hans, Schwartz, Charles E., Nürnberg, Peter, Bowie, James U., Ahmad, Jamil, Kubisch, Christian, Mundlos, Stefan, Borck, Guntram
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2016
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4728371/
https://ncbi.nlm.nih.gov/pubmed/26755636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.199430.115
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