@inbook{Porfirio_2016,
title={A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria},
ISBN={9783662536810},
ISSN={2192-8312},
url={http://dx.doi.org/10.1007/8904_2016_534},
DOI={10.1007/8904_2016_534},
booktitle={JIMD Reports,
Volume 30},
publisher={Springer Berlin Heidelberg},
author={Porfirio,
Berardino and Sestini,
Roberta and Gorelli,
Greta and Cordovana,
Miriam and Mannoni,
Alessandro and Usher,
Jeanette L. and Introne,
Wendy J. and Gahl,
William A. and Vilboux,
Thierry},
year={2016},
pages={45–52} }