A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference24 articles.
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3. Alkaptonuria: current Perspectives;Zatkova;Appl Clin Genet.,2020
4. C. Phornphutkul, W.J. Introne, M.B. Perry, et al, Natural history of alkaptonuria, The New England journal of medicine. 347(2002) 2111–21. https://doi.org/ 10.1056/NEJMoa021736.
5. A. Zatkova, D.B.n.V.d. Bernabe, H. Polákova, et al, High Frequency of Alkaptonuria in Slovakia_ Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots, The American Society of Human Genetics. 67(2000) 1333–39. https://doi.org/10.1016/S0002-9297(07)62964-4.
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