Challenging arterial calcification disease associated with rare NT5E gene mutation

BMJ Case Rep. 2020 Jun 11;13(6):e235365. doi: 10.1136/bcr-2020-235365.

Authors

Giampiero Avruscio¹, Mauro Massussi², Angelo Adamo¹, Alfredo Brusco^{3

4}

Affiliations

¹ Department of Cardiac, Thoracic and Vascular Sciences, Angiology Unit, University of Padua, Padova, Italy.
² Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padova, Italy.
³ Department of Medical Sciences, University of Turin, Torino, Italy alfredo.brusco@unito.it.
⁴ Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, Italy.

No abstract available

Keywords: cardiovascular medicine; genetics.

Publication types

Case Reports

MeSH terms

5'-Nucleotidase / deficiency
Female
GPI-Linked Proteins / deficiency
Humans
Intermittent Claudication / genetics*
Middle Aged
Mutation
Vascular Calcification / diagnostic imaging
Vascular Calcification / genetics*

Substances

GPI-Linked Proteins
5'-Nucleotidase
NT5E protein, human