Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy-Reference-Cited by-同舟云学术

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

Published:2015-03-25 Issue:1 Volume:24 Page:66-72
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201560.pdf

Reference38 articles.

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3. Fernández-Cañón JM, Granadino B, Beltrán-Valero de Bernabé D et al: The molecular basis of alkaptonuria. Nat Genet 1996; 14: 19–24.

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5. Titus GP, Mueller HA, Burgner J, Rodríguez de CS, Peñalva MA, Timm DE : Crystal structure of human homogentisate dioxygenase. Nat Struct Biol 2000; 7: 542–546.

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