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Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients

✍ Scribed by D. Beltrán-Valero de Bernabé; B. Granadino; I. Chiarelli; B. Porfirio; E. Mayatepek; R. Aquaron; M.M. Moore; J.J.M. Festen; R. Sanmartí; M.A. Peñalva; S. Rodríguez de Córdoba


Book ID
117852368
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
209 KB
Volume
62
Category
Article
ISSN
0002-9297

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Alkaptonuria (AKU) is caused by lack of homogentisate 1, 2 dioxygenase (HGO) activity. From the complete sequence of a human HGO cDNA, primers were designed in order to obtain reverse transcription-polymerase chain reaction products from tissues with ectopic transcription amenable to diagnostic anal