title: Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.
authors.affiliation: Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy.
authors.forename: Bruno
authors.initials: B
authors.lastname: Drera
authors.forename: Andrea
authors.initials: A
authors.lastname: Guala
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Zoppi
authors.forename: Rita
authors.initials: R
authors.lastname: Gardella
authors.forename: Piergiorgio
authors.initials: P
authors.lastname: Franceschini
authors.forename: Sergio
authors.initials: S
authors.lastname: Barlati
authors.forename: Marina
authors.initials: M
authors.lastname: Colombi
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001158:Arteries / Q000473:pathology*; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D005260:Female; D051246:Glucose Transport Proteins, Facilitative / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009389:Neovascularization, Pathologic / Q000235:genetics; D010375:Pedigree; D017422:Sequence Analysis, DNA; D013577:Syndrome; D014652:Vascular Diseases / Q000235:genetics*
chemical_list: D051246:Glucose Transport Proteins, Facilitative; C430746:SLC2A10 protein, human