HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1(−/−) Mice

Members of the highly conserved homeobox (HOX) gene family encode transcription factors that confer cellular and tissue identities along the antero-posterior axis of mice and humans. We have identified a founder homozygous missense mutation in HOXB1 in two families from a conservative German America...

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Huvudupphovsmän: Webb, Bryn D., Shaaban, Sherin, Gaspar, Harald, Cunha, Luis F., Schubert, Christian R., Hao, Ke, Robson, Caroline D., Chan, Wai-Man, Andrews, Caroline, MacKinnon, Sarah, Oystreck, Darren T., Hunter, David G., Iacovelli, Anthony J., Ye, Xiaoqian, Camminady, Anne, Engle, Elizabeth C., Jabs, Ethylin Wang
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2012
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3397264/
https://ncbi.nlm.nih.gov/pubmed/22770981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.05.018
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