A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].

A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].

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: Sally H Cross, Danilo G Macalinao, Lisa McKie, Lorraine Rose, Alison L Kearney, Joe Rainger, Caroline Thaung, Margaret Keighren, Shalini Jadeja, Katrine West, Stephen C Kneeland, Richard S Smith, Gareth R Howell, Fiona Young, Morag Robertson, Rob van T' Hof, Simon W M John, Ian J Jackson
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-05-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1004359
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https://doi.org/10.1371/journal.pgen.1004359

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