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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מידע ביבליוגרפי

Principais autores:	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
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Public Library of Science (PLoS) 2014-05-01
סדרה:	PLoS Genetics
גישה מקוונת:	https://doi.org/10.1371/journal.pgen.1004359
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!