Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.
Drera
Bruno
B
Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy.
Guala
Andrea
A
Zoppi
Nicoletta
N
Gardella
Rita
R
Franceschini
Piergiorgio
P
Barlati
Sergio
S
Colombi
Marina
M
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*
D051246:Glucose Transport Proteins, Facilitative; C430746:SLC2A10 protein, human