Novel mutations in 13 probands with galactokinase deficiency
| العنوان: | Novel mutations in 13 probands with galactokinase deficiency |
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| المؤلفون: | V. Kolosha, C. de Cespedes, Dwight Stambolian, William R. Skach, N. Buist, Rafael Trejos, K. Huang, T. Casco, D. Ledee, T. Tedesco, E. Anoia, Manuel Saborío, O. Mitelmann, L. Shih, R. Gitzelmann |
| المصدر: | Human Mutation. 15:447-453 |
| بيانات النشر: | Hindawi Limited, 2000. |
| سنة النشر: | 2000 |
| مصطلحات موضوعية: | Genetics, education.field_of_study, Mutant, Population, Galactosemia, Biology, medicine.disease, Galactokinase, Galactokinase deficiency, medicine, Mutation testing, Galactokinase activity, education, Gene, Genetics (clinical) |
| الوصف: | Galactokinase is an essential enzyme in the metabolism of galactose. Patients with deficiencies in galactokinase exhibit early-onset cataracts. We examined the sequence of the human galactokinase gene (GK1) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations. One of the mutations occurred in six of the 13 probands examined, and the remaining 11 were unique mutations. Expression of each of the mutant GK1 genes in Xenopus oocytes resulted in very low galactokinase activity levels. These results provide important information regarding the types of GK1 mutations that occur in the human population. Hum Mutat 15:447–453, 2000. © 2000 Wiley-Liss, Inc. |
| تدمد: | 1098-1004 1059-7794 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::55369c63e9e2b9e4990e6bc0358bb096 https://doi.org/10.1002/(sici)1098-1004(200005)15:5<447::aid-humu6>3.0.co;2-m |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi...........55369c63e9e2b9e4990e6bc0358bb096 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10981004 10597794 |
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