| Autor: |
Charles E. Rath, Lawrence E. Pierce, Kenneth McCoy |
| Rok vydání: |
1963 |
| Předmět: |
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| Zdroj: |
The New England journal of medicine. 268 |
| ISSN: |
0028-4793 |
| Popis: |
THE red-cell sickling tendency of certain persons has long been a matter of great interest. Study of this problem by Pauling and his associates1 led to the suggestion of a genetic change in hemoglobin formation that resulted in synthesis of different globin fractions for normal and sickle-cell hemoglobin. Subsequent investigation by Ingram2 has shown the specific globin abnormality to be a single amino acid substitution, valine for glutamic acid, in each identical half hemoglobin molecule containing approximately 300 amino acids. Sickle-cell anemia thus became the first example of a molecular disease in which the product of gene mutation was characterized . . . |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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