Rapid detection methods for five HGO gene mutations causing alkaptonuria
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference19 articles.
1. The nature of the defect in tyrosine metabolism in alkaptonuria;La Du;J Biol Chem,1958
2. The molecular basis of alkaptonuria;Fernández-Cañón;Nat Genet,1996
3. Molecular defects in alkaptonuria;Gehrig;Cytogenet Cell Genet,1997
4. Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients;Beltrán-Valero de Bernabé;Am J Hum Genet,1998
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1. Aortic Stenosis with Alkaptonuria;Japanese Journal of Cardiovascular Surgery;2022-11-15
2. Disorders of phenylalanine and tyrosine metabolism;Translational Science of Rare Diseases;2020-08-03
3. Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India;Clinical Rheumatology;2020-03-24
4. Assessment of Thyroid Function in Patients With Alkaptonuria;JAMA Network Open;2020-03-23
5. A novel missense mutation of the HGD gene causes Alkaptonuria;Meta Gene;2018-12
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