β -Thalassemia in A Thai Family Is Caused by A 3.4 Kb Deletion Including the Entire β-Globin Gene
| العنوان: | β -Thalassemia in A Thai Family Is Caused by A 3.4 Kb Deletion Including the Entire β-Globin Gene |
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| المؤلفون: | Joachim Hundrieser, M. Pape, Torpong Sanguansermsri, Gebhard Flatz, Marion Laig |
| المصدر: | Hemoglobin. 14:157-168 |
| بيانات النشر: | Informa UK Limited, 1990. |
| سنة النشر: | 1990 |
| مصطلحات موضوعية: | Genetics, Biochemistry (medical), Clinical Biochemistry, Nonsense mutation, Breakpoint, Locus (genetics), Hematology, Biology, Molecular biology, Nucleic acid thermodynamics, Restriction map, hemic and lymphatic diseases, Globin, Gene, Genetics (clinical), Southern blot |
| الوصف: | DNA analysis of a Northern Thai family with a child affected with beta-thalassemia major revealed a novel deletion of 3.4 kb removing the entire beta-globin gene in the proposita and her mother. Detailed mapping of the deletion located the 5' breakpoint in the region between nucleotides -810 and -128 of the beta-globin locus, and the 3' breakpoint between the Ava II and Xmn I sites located downstream of the beta-globin gene. The father transmitted a codon 17 nonsense mutation, a beta-thalassemia variant common in Thailand, to the child. |
| تدمد: | 1532-432X 0363-0269 |
| DOI: | 10.3109/03630269009046957 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::7716be6be70b6d51b2ec1c13fe74e1e9 https://doi.org/10.3109/03630269009046957 |
| رقم الانضمام: | edsair.doi...........7716be6be70b6d51b2ec1c13fe74e1e9 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1532432X 03630269 |
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| DOI: | 10.3109/03630269009046957 |