Two New α-Thalassemia Point Mutations that are Undetectable by Biochemical Techniques
| العنوان: | Two New α-Thalassemia Point Mutations that are Undetectable by Biochemical Techniques |
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| المؤلفون: | Laura Cohen, Claire Barro, Caroline Garcia, Brigitte Pegourie, Philippe Joly, Gérard Besson, Alain Francina, Stéphane Courby |
| المصدر: | Hemoglobin. 32:411-417 |
| بيانات النشر: | Informa UK Limited, 2008. |
| سنة النشر: | 2008 |
| مصطلحات موضوعية: | Silent mutation, Genetics, Mutation, Hemoglobins, Abnormal, Thalassemia, Point mutation, Biochemistry (medical), Clinical Biochemistry, Nonsense mutation, Mutation, Missense, Hematology, Biology, medicine.disease_cause, medicine.disease, Molecular biology, Frameshift mutation, alpha-Thalassemia, medicine, Humans, Point Mutation, Missense mutation, Codon, Frameshift Mutation, Gene, Genetics (clinical) |
| الوصف: | We report two new point mutations causing alpha-thalassemia (alpha-thal) that could not be characterized by conventional biochemical studies. The first mutation is a single base substitution at codon 123 of the alpha1-globin gene [alpha123(H6)Ala--Pro, GCCCCC (alpha1)] and leads to the substitution of a proline residue in the H helix. The resulting unstable hemoglobin (Hb) variant has been named Hb Voreppe. The second is a frameshift of the alpha2 gene due to a deletion (-C), either of the third base of codon 112 or of the first base of codon 113, that causes a premature stop codon at position 132. |
| تدمد: | 1532-432X 0363-0269 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35f49d1bcabc904a5a58448082ddb2d7Test https://doi.org/10.1080/03630260802173791Test |
| رقم الانضمام: | edsair.doi.dedup.....35f49d1bcabc904a5a58448082ddb2d7 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1532432X 03630269 |
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