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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Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha: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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