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Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I
Glutaric aciduria type I (GA-I) is an organic aciduria caused by glutaryl-CoA dehydrogenase (GCDH) deficiency. There are limited studies on GA-I from India. A total of 48 Indian GA-I patients were screened for selected disease-causing mutations such as R402W, A421V, A293T, R227P, and V400M using pol...
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| Publié dans: | J Pediatr Genet |
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| Auteurs principaux: | , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Georg Thieme Verlag KG
2017
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| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5548524/ https://ncbi.nlm.nih.gov/pubmed/28794906 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0037-1599202 |
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