Article
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 - 1 Sept 2020
Danda Sumita, Mohan Sony, Devaraj Prabavathi, Dutta Atanu K, Nampoothiri Sheela, Yesodharan Dhanya, Phadke Shubha R, Jalan Anil B, Thangaraj K, Verma Ishwar Chandra, Danda Debashish, Jebaraj Isaac
Abstract excerpt
INTRODUCTION: Alkaptonuria (AKU) is a rare metabolic disease. The global incidence is 1:100,000 to 1:250,000. However, identification of a founder mutation in a gypsy population from India prompted us to study the prevalence of AKU in this population and to do molecular typing in referred cases of AKU from the rest of India. OBJECTIVE: To determine the prevalence of AKU in the gypsy population predominantly...
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