An update on molecular genetics of Alkaptonuria (AKU)
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-011-9363-z
Reference51 articles.
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3. Aquaron R, Rodríguez de Córdoba S, Peñalva MA, Badens C, Roux H (2009) Alkaptonuria, ochronosis and ochronotic arthropathy in mainland France and the Reunion Island. A report of clinical and molecular findings. Current Rheumatol Rev 5:111–125
4. Beltrán-Valero de Bernabé D, Granadino B, Chiarelli I et al (1998) Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. Am J Hum Genet 62:776–784
5. Beltrán-Valero de Bernabé D, Jimenez FJ, Aquaron R, Rodríguez de Córdoba S (1999a) Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO). Am J Hum Genet 64:1316–1322
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