Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygousSLC2A10mutations
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35776/fullpdf
Reference14 articles.
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3. Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13;Coucke;J Med Genet,2003
4. Mutations in the facilitative glucose transporter GLUT 10 alter angiogenesis and caouse arterial tortuosity syndrome;Coucke;Nat Genet,2006
5. Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome;Drera;Am J Med Genet Part A,2007
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