1. Abdulrazzaq, Y.M., Ibrahim, A., Al-Khayat, A.L., Nagelkerke, N., Ali, B.R.: R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE. Ann. Hum. Genet. 73, 125–130 (2009)
2. Aquaron, R., Rodríguez de Córdoba, S., Penalva, M.A., Badens, C., Roux, H.: Alkaptonuria, ochronosis and ochronotic arthropathy in mainland France and the Reunion Island. A report of clinical and molecular findings. Curr. Rheumatol. Rev. 5, 111–125 (2009)
3. Beighton, P., Berman, P., Sršeň, Š.: Alkaptonuria. In: McKusick’s heritable disorders of connective tissue, 5th edn, pp. 315–334. Mosby, St. Louis (1993)
4. Beltrán-Valero de Bernabé, D., Granadino, B., Chiarelli, I., Porfirio, B., Mayatepek, E., Aquaron, R., Moore, M.M., Festen, J.J., Sanmartí, R., Penalva, M.A., de Córdoba, S.R.: Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. Am. J. Hum. Genet. 62, 776–784 (1998)
5. Beltrán-Valero de Bernabé, D., Jimenez, F.J., Aquaron, R., Rodríguez de Cordoba, S.: Analysis of alkaptonuria mutations and polymorphisms reveals the CCC sequence motif is mutational hot spot in the homogentisate 1,2 dioxygenase gene. Am. J. Med. Genet. 64, 1316–1322 (1999)