Alkaptonuria
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1861-1
Reference36 articles.
1. Al-Sbou M, Mwafi N, Lubad MA (2012) Identification of forty cases with alkaptonuria in one village in Jordan. Rheumatol Int 32:3737–3740. https://doi.org/10.1007/s00296-011-2219-x
2. Anikster Y, Nyhan WL, Gahl WA (1998) NTBC and alkaptonuria. Am J Hum Genet 63:920–921. https://doi.org/10.1086/302027
3. Beltrán-Valero de Bernabé D 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. https://doi.org/10.1086/301805
4. Beltran-Valero de Bernabe D, Jimenez FJ, Aquaron R, Rodriguez de Cordoba S (1999) 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. https://doi.org/10.1086/302376
5. Chevez Barrios P, Font RL (2004) Pigmented conjunctival lesions as initial manifestation of ochronosis. Arch Ophthalmol 122:1060–1063. https://doi.org/10.1001/archopht.122.7.1060
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