High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots

Author:

Zatková Andrea,de Bernabé Daniel Beltrán Valero,Poláková Helena,Zvarík Marek,Feráková Eva,Bošák Vladimir,Ferák Vladimír,Kádasi L'udovít,de Córdoba Santiago Rodríguez

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area;Bach;Am J Hum Genet,1993

2. Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients;Beltrán-Valero de Bernabé;Am J Hum Genet,1998

3. 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);Beltrán-Valero de Bernabé;Am J Hum Genet,1999

4. Mutational analysis of the HGO gene in Finnish alkaptonuria patients;Beltrán-Valero de Bernabé;J Med Genet,1999

5. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions;Cooper;Hum Genet,1990

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