A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia
Author:
Affiliation:
1. Institute of Human Genetics; University of Freiburg; Freiburg Germany
2. Institute of Medical Genetics; Yorkhill NHS Trust; Glasgow UK
3. Childrens Hospital Hamburg-Altona; Hamburg Germany
Funder
Deutsche Forschungsgemeinschaft
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.282/fullpdf
Reference26 articles.
1. Gene expression regulation by upstream open reding frames and human disease;Barbosa;PLoS Genet.,2013
2. A single recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V;Cho;Am. J. Hum. Genet.,2012
3. The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia;Fonseca;BMC Med. Genet.,2013
4. A mutation creating an out-of-frame alternative translation initiation site in the GRHPR 5′UTR causing primary hyperoxaluria type II;Fu;Clin. Genet.,2015
5. Acampomelic form of campomelic dysplasia with SOX9 missense mutation;Gopakumar;Indian J. Pediatr.,2014
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