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

Alkaptonuria (AKU) is an autosomal recessive disorder caused by mutations in homogentisate-1,2-dioxygenase (HGD) gene leading to the deficiency of HGD enzyme activity. The DevelopAKUre project is underway to test nitisinone as a specific treatment to counteract this derangement of the phenylalanine-...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Nemethova, Martina, Radvanszky, Jan, Kadasi, Ludevit, Ascher, David B, Pires, Douglas E V, Blundell, Tom L, Porfirio, Berardino, Mannoni, Alessandro, Santucci, Annalisa, Milucci, Lia, Sestini, Silvia, Biolcati, Gianfranco, Sorge, Fiammetta, Aurizi, Caterina, Aquaron, Robert, Alsbou, Mohammed, Marques Lourenço, Charles, Ramadevi, Kanakasabapathi, Ranganath, Lakshminarayan R, Gallagher, James A, van Kan, Christa, Hall, Anthony K, Olsson, Birgitta, Sireau, Nicolas, Ayoob, Hana, Timmis, Oliver G, Le Quan Sang, Kim-Hanh, Genovese, Federica, Imrich, Richard, Rovensky, Jozef, Srinivasaraghavan, Rangan, Bharadwaj, Shruthi K, Spiegel, Ronen, Zatkova, Andrea
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2016
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795215/
https://ncbi.nlm.nih.gov/pubmed/25804398
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.60
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