PMC Links for Nucleotide (Select 227908849) - PMC

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Items: 4

Select item 51104491.

A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria

Berardino Porfirio, Roberta Sestini, Greta Gorelli, Miriam Cordovana, Alessandro Mannoni, Jeanette L. Usher, Wendy J. Introne, William A. Gahl, Thierry Vilboux

JIMD Rep. 2016; 30: 45–52. Published online 2016 Mar 10. doi: 10.1007/8904_2016_534

PMCID:: PMC5110449

Abstract Article PDF–249K

Select item 47952152.

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease' in Italy

Martina Nemethova, Jan Radvanszky, Ludevit Kadasi, David B Ascher, Douglas E V Pires, Tom L Blundell, Berardino Porfirio, Alessandro Mannoni, Annalisa Santucci, Lia Milucci, Silvia Sestini, Gianfranco Biolcati, Fiammetta Sorge, Caterina Aurizi, Robert Aquaron, Mohammed Alsbou, Charles Marques Lourenço, Kanakasabapathi Ramadevi, Lakshminarayan R Ranganath, James A Gallagher, Christa van Kan, Anthony K Hall, Birgitta Olsson, Nicolas Sireau, Hana Ayoob, Oliver G Timmis, Kim-Hanh Le Quan Sang, Federica Genovese, Richard Imrich, Jozef Rovensky, Rangan Srinivasaraghavan, Shruthi K Bharadwaj, Ronen Spiegel, Andrea Zatkova

Eur J Hum Genet. 2016 Jan; 24(1): 66–72. Published online 2015 Mar 25. doi: 10.1038/ejhg.2015.60