Search Results - "Munimanda, Gopikrishna"
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Alpine salamanders at risk? The current status of an emerging fungal pathogen
Published in PloS one (17-05-2024)“…Amphibians globally suffer from emerging infectious diseases like chytridiomycosis caused by the continuously spreading chytrid fungi. One is Batrachochytrium…”
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Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family
Published in Journal of human genetics (01-09-2006)“…Farber disease is a rare lysosomal storage disorder caused by a deficiency of the acid ceramidase enzyme, leading to the accumulation of ceramide in various…”
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Molecular genetic analyses of β-thalassemia in South India reveals rare mutations in the β-globin gene
Published in Journal of human genetics (01-08-2004)“…beta-Thalassemia is the most prevalent single-gene disorder. Since no viable forms of treatment are available, the best course is prevention through prenatal…”
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A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family
Published in Canadian journal of cardiology (01-08-2007)“…Familial hypertrophic cardiomyopathy is an autosomal dominant genetic disorder characterized mainly by left ventricular hypertrophy and myocyte disarray; it is…”
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