The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference23 articles.
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3. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome;Brown;Nature,1991
4. SpliceDB: database of canonical and non-canonical mammalian splice sites;Burset;Nucleic Acids Res.,2001
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1. Trafficking mechanisms of extracellular matrix macromolecules: Insights from vertebrate development and human diseases;The International Journal of Biochemistry & Cell Biology;2014-02
2. A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree;Clinica Chimica Acta;2013-10
3. A novel COMP mutation in a Chinese patient with pseudoachondroplasia;Gene;2013-06
4. SEDLIN Forms Homodimers: Characterisation of SEDLIN Mutations and Their Interactions with Transcription Factors MBP1, PITX1 and SF1;PLoS ONE;2010-05-14
5. Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda;Biochemical Journal;2009-09-25
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