A Dominant-Negative Mutation of Mouse Lmx1b Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation

Mutations in the LIM-homeodomain transcription factor LMX1B cause nail-patella syndrome, an autosomal dominant pleiotrophic human disorder in which nail, patella and elbow dysplasia is associated with other skeletal abnormalities and variably nephropathy and glaucoma. It is thought to be a haploinsu...

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Main Authors: Cross, Sally H., Macalinao, Danilo G., McKie, Lisa, Rose, Lorraine, Kearney, Alison L., Rainger, Joe, Thaung, Caroline, Keighren, Margaret, Jadeja, Shalini, West, Katrine, Kneeland, Stephen C., Smith, Richard S., Howell, Gareth R., Young, Fiona, Robertson, Morag, van t' Hof, Rob, John, Simon W. M., Jackson, Ian J.
פורמט: Artigo
שפה:Inglês
יצא לאור: Public Library of Science 2014
נושאים:
Research Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC4014447/
https://ncbi.nlm.nih.gov/pubmed/24809698
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1004359
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