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Characterization of two families with Arterial Tortuosity Syndrome with homozygosity for a novel and a recurrent missense mutations in SLC2A10 gene

Authors :
Dordoni, C.
Ritelli, M.
Nicola Chiarelli
Quinzani, S.
Pezzani, L.
Venturini, M.
Calzavara-Pinton, P.
Reffo, E.
Milanesi, O.
Colombi, M.
Source :
Università degli Studi di Brescia-IRIS
Publication Year :
2013

Details

Database :
OpenAIRE
Journal :
Università degli Studi di Brescia-IRIS
Accession number :
edsair.dedup.wf.001..56256092c5b452acbf6ceb79ae85ee9a