Three-generational alkaptonuria in a non-consanguineous family
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-008-0994-7
Reference24 articles.
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3. Beltran-Valero de Bernabe D, Granadino B, 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. doi: 10.1086/301805 .
4. Fernández-Cañón JM, Peñalva MA (1995) Molecular characterization of a gene encoding a homogentisate dioxygenase from Aspergillus nidulans and identification of its human and plant homologues. J Biol Chem 270: 21199–21205. doi: 10.1074/jbc.270.36.21199 .
5. Garrod E (1902) The incidence of alkaptonuria: a study in chemical individuality. Lancet 160(4137): 1616–1620. doi: 10.1016/S0140-6736(01)41972-6 .
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