On the ocular findings in ochronosis: a systematic review of literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology,General Medicine
Link
http://link.springer.com/article/10.1186/1471-2415-14-12/fulltext.html
Reference100 articles.
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3. Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA: Natural history of alkaptonuria. N Engl J Med. 2002, 347: 2111-2121. 10.1056/NEJMoa021736.
4. Goicoechea De Jorge E, Lorda I, Gallardo ME, Perez B, Perez De Ferran C, Mendoza H, Rodriguez De Cordoba S: Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene. J Med Genet. 2002, 39: E40-10.1136/jmg.39.7.e40.
5. Zatkova A, de Bernabe DB, Polakova H, Zvarik M, Ferakova E, Bosak V, Ferak V, Kadasi L, de Cordoba SR: High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. Am J Hum Genet. 2000, 67: 1333-1339. 10.1086/321209.
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