Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34064/fullpdf
Reference19 articles.
1. Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997;Beighton;Am J Med Genet,1998
2. Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome;Dundar;Am J Hum Genet,2009
3. The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-β signaling pathways;Fukada;PLoS ONE,2008
4. Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome-an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13;Giunta;Am J Hum Genet,2008
5. BLAT-the BLAST-like alignment tool;Kent;Genome Res,2002
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