Sindrom AT: Perbedaan antara revisi
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'''Sindrom AT''' ({{lang-en|Arterial tortuosity syndrome, ATS}}) merupakan kelainan bawaan yang ditandai dengan ''tortuosity'' dan elongasi pada [[pembuluh nadi]] utama, termasuk [[aorta]], yang disebabkan karena mutasi genetik [[transporter glukosa#GLUT10|SLC2A10]]<ref name="O95528">{{en}} {{cite web
| url = http://www.uniprot.org/uniprot/O95528
| title = Reviewed, UniProtKB/Swiss-Prot O95528 (GTR10_HUMAN)
| accessdate = 2010-05-03
| work = UniProt
}}</ref> pada [[kromosom]] 20q13.<ref>{{en}} {{cite web
| url = http://www.ncbi.nlm.nih.gov/pubmed/14569121
| title = Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13.
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ATS kadang disertai gejala klinis lain seperti ''aneurysms''<ref>{{en}} {{cite web
| url = http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=16550171
| title = Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
| accessdate = 2010-05-03
| work = Center for Medical Genetics, Ghent University; Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A.
}}</ref> dari [[pembuluh nadi]] besar
== Rujukan ==
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[[Kategori:Sindrom|Arterial tortuosity]]
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